Preview
FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018
NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021
WOMEN FOR WOMEN OBSTETRIC & GYNECOLOGY December 3. 2015
410 LAKEVILLE RD. NEW HYDE PARK, NY 11042 Page 1
(516) 437-4300Far (516) 502-4348
https://wornen4womenobgyn,oom Office Visll
THERESA SINSON
Female Dos 1588 t Ins: AETNA OPEN ACCESS HMO
08/28/2015- Offloo Initial
Visit: OB Visit
Provider:MARNI SANDERS ND
Locationof Care: WOMEN FOR WOMEN0BSTETRIC & GYNECOLOGY
Blood Neg
Billrubin
Neg
UrobillnogenNeg
Ketones Meg
ProteinNeg
NitrateNeg
Glucose Neg
pH 6
6,G.1010
Vitals
Weight 130
PreviousWeight 122
Blood Pressure 112 / 62
LNP 07/02/2015
OB Chart Notes
prior cle- ?mode of deEvery
OB initialIntake Information
Race: White/Caucasian
otatus:
Marital Married
waltress
Type of work:
# childrenat home:1
Partner Information
Partnerof Mothenderek
Menstrual History
LMP (date):
07/02/2015
EDC by LMPw 04/07/2016
New BestWorking EDC=® 04/07/2010
Menarche 11 years
(age onset):
Monses irreg days
Interval:
Monstrualflow(days)5 days
Pronatal Visit
FOB name: derek
EDC Confirmation:
New working EDC: 04/07/2016 -
Last mensesonset (LMP) date: 07/02/2015
EDC by LMP: 04/07/2016
FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018
NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021
WOMEN FOR WOMEN OBSTETRIC & GYNECOLOGY Dooember 3,2016
410 LAKl!VILLERD. NEW HYDE PARK , NY 11042 Page 2
Fax: (516) 502.4348
(516) 487-4300
httpsJ/women4wome=bgyncom Office Vish
THERESA ROBINSON
Female D0 16681 Ins: AETNAOPEN ACCESS HMO
UltrasoundDating Informatiom
Gest age by curren t sona: 7W 50
EDC by current sono: 04/08/2016
OBUltrasound DataEntry:-
Ultrasound Date: 0812612015
Fetai number: 1
cardiacMotion: Yes
Measurements:
Grown-Rump Length (rnm): 14.4
Dating:
Gestational age: 7 weeks. 5 days
EDC byacrtogram! 04/08/2018
Best WorldngEDG: 04/07/2016
Past Pregnertcy
History
Gravide: 6
Pere: 1041
Aborts: 2
Elect. Ab: 1
Ectoples: 1
Pregnancy #1
Delivery dete: 2009
Weeks Gestation: 37
type·
Delivery C-Section
infant Sex: Male
Birth weight 7#5
Common to: Fetal distress,
hycanaph os1s- meternal,
shtngles, had infertilky
treatments,
conceivedwith IUl
Pregnancy #2
Delivery date: 2010
Delivery type: actopio
Commentr LSC- salpingectomy
GYNECOLOGlCAL HISTORY:
PID/8TD: no
Abnormal Pap:.No
Cyst: Yea
Fibroids: No
MENSTRUALHISTORY: . . .. . ._ _. _ _ .
Monarche:11
Intervel: Irreg
FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018
NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021
WOMEN FOR WOMEN OBSTETRIC & GYNECOLOGY December 3, 2015
410 IAKEVILt.ERD. NEW HYDE PARK NY 11042 Page 3
(616) 437-4300Fax: (616) 5024348
https //women4womenobgyn.com Of fice Visit
THERESA ROBINSON
Female DO 15681 ins: AETNA OPEN ACCESS HMO
Duration: 6
Past History
Past MedloalHistory(rsvisWsd- no changes Other medical history Includes: anxiety,
required):
meningloma.
SurgloelHistory(reviewed- no changee required):
Patentreports surglool history to Include: DVC ×3,
eye surgeries x 3, LSC. octopic
asipingectomy..
Pamily History(reviewed- no changes Father is alive. Mother is alive. The patient indicatee
required):
family history of breast oanoer (mgm),
skin cancer (grandmother),
diabetes thyroid
grandfather),
(father,
disease (mother). great grandmother-
Other family history includes: maternal The patient
breast cancer.
denies family history of colon cancer. ovarian cancer.
SoclelHistory(reviewed•no changes rcqu!rod): She drinks c1 alcoholic
She has never smoked.
drinks per day. She uses marguana drugs. THERESA
is a waitress. with 1 child.
She is married
Genetic Histoty
Father of baby· derek
Thalassemia mother:no fatherno
Neural tube defect:
mother:no father:
no
Down's Syndrome: mother:no father:
no
Tay-Sachs: mother no father:
no
Sicide CeI Dz/Traitmother:no fatherno
Hemophills: mothen no fatnecno
MuscularDystrophy: mothen no fatherno
Cystic Fibroels: mother:no father:
no
Huntington's
Dz: mothen no no
father:
Mental Retardation:mothec no fathenno
Fraglie X: mother no fatherno
Other Genetio or
Chromosomal D2: mother:no father: yes comments: sister
Child with other
birth defect: mothen no father: no
> 3 spont. abordons:
mothen no
Hx of stillbirth: mothec no
Infection Risk History
Patient with history of Genital Harpes· no
Sexual partner with history of Genital Harpes: no
Syphilie, HPV): no
History of STD (GC, Chiemydia,
Rash, Viral, or Febrile Illness since I.MP: no
re to Cat Litten no
Ch Pox immune immune
Status: Hx of Disease:
Flowshoot Vlow forFollow-up Wsit
Estimated weeks of
gestation: 7 6/7
Weight 130
FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018
NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021
WOMEN FOR WOMEN OBSTETRIC & GYNECOLOGY December 3, 2015
410 LAKEVILLE RD, NEW HYDE PARK. NY 11042 Page 4
(516) 437-4300Fax: (516) 602-4348
https://women4womenobgyn.com Office Visit
THERESA ROBINSON
Female DOB: 15681 Ins: AETNAOPEN ACCESS HMO
Blood pressure: 112 I 62
Utine protein: Neg
Udne glucose: Neg
Hx headache? No
Nausea/vomiting? freq
Edeme? 0
Bleeding? no
Leakage/discharge? no
Fetal actMty: N/A
Labor symptoms? no
FHR: 164
Comment: prenatal labs, sequential, mode of delivery
discussed
Next visit 4 wk
Physical Exam'nation
Vits!Slans:
BP (upright):
112s2 Wt: 130 Last Ht: 66 (08/13/2013)
Plan
Ordera for today's
violt
i.Ordered Ofc Vat, Eat Level IV [CPT-99214]
2. OrderedU/A ICPT-81002]
3. Ordered TransvaginaINONOB (CPT-76830]
Disposition:
Retum to office Next apptdt:1 month
]jit-FamilyJ
signed
Electronically by MARNI SANDERS MD on 08/26/2016at12:31PM
FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018
NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021
WOMEN FOR WOMEN OBSTETRIC & GYNECOLOGV December A 2015
410 LAKEVILLE RD. NEW HYOE PARK. NY 11042 Page 1
(618) 487-4300Far (516) 602-4348
https1/women4womenobgyn.com Office Visit
THERESA
Female DoB; 16681 ine: AETNAOPEN ACCESS HMO
08/24/2015- Offloe
Vieft:initial
OS Visit
ProvidersMARNI SANDERS MD
Locationof Care: WOMEN FOR WOMEN OBSTETRIC & GYiiECOLOGY
Blood Neg
BRIrobinNeg
Utob1nnogen Neg
Ketones Neg
ProteinNeg
NitrateNeg
Glucose Neg
6
S.G. 1.010
Vitals
Weight 130
Previous Weight 122
Blood Pressure 112 / 62
LMP 07A12/2016
OB ChartNotee
prior cJs-7mode
of delivesy
OB IniSal Intake Information
Race! White/Coucasian
Maritalstatus:Manted
Type of work:waitmas
# childrenat home:1
Partner Information
Partnerof Mother:
derek
MenstrumI History
LMP (date):
07102/2016
EDC by LMPa 04/07a016
New Best Working EDC••> 04/07/2016
Menerche (age onset):
11 years
Menaea interval:
Irreg days
Monstruel fbw (days)6 days
Prenatal Vlett
FOB name: derek
- -- - GDC Confirmation
- -
-vviortingEDC: 04/075M6 - -
Last menses onset (LMP) date: 07/02/2015
EDC by LMP: 04/074016
FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018
NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021
WOMEN FOR WOMEN OBSTETRIG & GYNECOLOGY December 3, 2015
410 LAKEVillE RD. NEW HYDE PARK, NY 11042 Page 1
(516)437-4300 Fax: (S16) 6024348
httper)/women4Wamsiicbgyn.com Lab Report
THERESA ROBINSON
Female 00 18881 Ins: AETNA OPEN ACCESSHMO
evi2ni¿ûia-Lab Report:CULTUREt$5NS,.URINE
Froviden FotderTriage
Leeetb::of Cara: Women forWomen Obstaticëand CynscGicgy
Patient: THERESA ROBINSOX
ID: SUSRISE 15601
Watet All result statuses are Final unlese otherwise noted.
Patient Note : Fastinga No
Tests ; (1) CULTURE/5EN$, URINE (E2C9)
1 ORINE CULTURE
CULTUR5/8ENS,URINE
REPORT STATOS: NNAL
SOURCE: UMNE
CULTURE: NO OR0WIT
Notet An exclantation mark (!j irÂLcates a result that was not dispersed J.nto
the flowsheet.
Documanc Creation Date: 08/27/2015 9:01 PR
(1) order result status: r1nal
Collectica cr observation date-tizes 08/2d/2015 12:25
Requeated date-time:
Receipt date-time; 08/26/2015 17320
Reported date-timer 08/27/2015 20311
Referring Physician.r
Ordering Physician t MARNI $ANDERS (TRIAGE)
Specimen source
Sources SUNMSE
filler Order Number: JG789711
Lab site: 1
the following tests had no related values for diapersal to the flowsheet;
URINE CULTuRE, (No Value Reported; , (0
signed
Electrottlaally eyCHRISTINEiJ OljNCAN NC on 08/28/20tBat2:60PM
FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018
NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021
WOMEN FOR WOMEN OBSTETRIC & GYNECOLOGY December 3, 2016
410 LAKEVillE RD. NEW HYOE PARK, NY 11042 Page 1
(616) 437.4300Fax: (618) 502-4348
https://women4womenobgyn.com LebReport
THERESA BINSON
Female DOB 15681 Ins: AETNAOPEN ACCESSHMO
vauum sS - Lab Report:
OBSTETRIC PANEL W/RFX, HEMOGLOBINOPATHY ...CF, SMA,
FRAGlLE X
Providen NICOLE ABELL MD
Locationof Care: Women for WomenobstetricsandGyn::±!egy
Patient; THERESA ROBINSON
10: LAB RC617206
Note: All result statuses are Tinal unless otherwise noted.
Tests: (1) TSH W/REFL TREE 24 (43562Al
TSH 2.05 m"*Ã jL 0.40-4.50 +1
Tests: (2) OBSTETRIC PANSL W/RFX (182A)
WBC 9.1 Thous/me; 3.8-10.0 *2
RBC 4.24 N111/mcL 3.00-5.10 *3
HENOGLOBIN 12.8 9/dL 11.7-15.5 *4
HEMATOCRIT 39.? & 35 . 0-4 5 .0
NCV 93.4 80 . 0-100.
0 ' 6
ft
NCH 30.1 pg 27.0-33.0 *7
I NCHC 32.2 g/d: 32,0-36.0 *8
! RDN 12.8 s 11,0-15.0 *9
PLATELET COUNT 214 Tho::s/mcL 140-400 '10
I NPV 10.0 tL 7.5-11.5 -11
I TOTAL NEUTROPilILS,% 70.4 $ 30-80 •12
I TOTAL LYMPHOCYTES,t 21.6 5 15-49 *I3
I NONOCYTES,% 7.2 4 0-13 *14
I EOSINOPHILS,% 0.4 % 0-8 -15
I BASoPHILs,4 0.4 % 0-2 *16
I NEUTROPHILS,ABSOLUTE 6406 Cells/mcL 1500-7800 *17
I LYMPECCYTES,ABSOLUTE '966 Cells/mcL 650-3900 08
I NONOCYTES,ABSOLUTE 655 Colle/met 200-950 "h
I EOSINOPHILS,ABSOLUTE 36 Ce'1stacL 15-500 •20
I BASOPHILS,ABSOLOTE 36 Celis/mcL 0-200 '21
I DIFFERENTIAL v22
An instr.1ment differential was performed.
Tests: (3) HEMOGLOBINOPATHYEVAL (4011S)
! INTERPRETATION *23
Normal Pattern
HENOGLOBIN A 96.4 Percent >96.0 +24
I HENOGLOBIN F C.0 Percent <2.0 *25
I HENOGLOBIN A2 2.6 Percent 1.0-3.5 *26
I HEMOGLOSIN S 0.C Percent 0.0-0.0 -2
1 EENOGLOBIN C 0.0 Percent 0.0-0.0 +28
I HENOGLOBIN VARIANT C.0 Percen: 0.0-0.0 +29
Tests: (4) (182A)
HB S AG Non Rea c Live Non Roactivo *30
Tests: (5) (182A)
RPR SCREEN Nonreac t i ve Nonreactive *31
Tester (6) FTA-ABS, SERUM (53935)
I FTA <3id Kot Report> *32
FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018
NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021
WOMEN FOR WOMEN OBSTETRIC & GYNECOLOGY December 3.2016
410LAKEVlLLE RD. NEW HYDE PARK, NY 11042 Page 2
(816) 437-4300Far (518) 502-4348
https'//women4waa==ahgyn.com Lab Report
THERESA ROBINSON
Famefe DoB: 16681 Ins:AETNAOPENACCESSHMO
Tests: (7) VARICELLA-20STER AB (IGG) (54031E)
VARICELLA-EOSTER AB (IGG)
2.57 Index Value >/ 1.10 *33
Index Value Results Interprotation
<0.91 Negative - So VZV IgG antibody detected.
0.91-1.09 Equivocal - Proaence or absence of V2V
IgG antibody cannot discorned.
>a1.10 Positive - "EV IgG antibody detected.
A positive result indicates that the patient has antibody
to VEV but does not differentiate between infection (active
or past) and vaccination. The clinical diagnosis must be
interpreted in conjunction with the clinical signs and
symptoms of the patient. This assay reliably measures
imraunity due to previous infection but may not always be
sensitive enough to detect antibodies induced by
vaccination. Thus, a negative result in a vaccinated
individual does not necessarily indicate susceptibility
to VZV infectior..
Tests: (8) (182A)
RUBELLA AB (IGG) 2.83 Index value >/=1.10 *34
The presence of Rubella IgG antibody suggests immunization
or past or current infection with Rubella virus.
Index Value Results Interpretation
<0.51 Negative - No RubailaTge andEëdy BëEected.
0.91-1,09 Equivccal - Presence or absenco of Rubella
IgG antibody cannot be discerned.
>al.10 Foeitive - Rubella IgG antibody detected.
Tests: (9) LEAD,BLOOD (56713E]
I LEAD,BLoDD <1 acq/dL <10 "35
venous
Children 6 yeare and younger < 5 mog/dL
Blood lead levels in the range of 5-9 acg/dL have been
associated with adverse health effects in children aged
6 years and younger. Patter.t :nanagement varies by age
and CDC Blood Level Range. Refer to the CDC website regarding
Lead Publicationa!case Kanagement for recommended
interventions.
Other Individuals > 6 years <10 mog/dL
fithout Identifiable Exposure <10 mcg/dL
OSHA Industrial Workplace Threshold <40 mogIdL
Additional Notes:
--- OSHA considere acq/-dL to. be _equivalent. to.mcq/_1ALgrams
of whole blood. (Reference 17.13)
OSHA provides levels for temporary removal from workplace
I due to elevated blood Load, (Reference 17.12)
FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018
NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021
WOMEN FOR WOMEN OBBTETRIC & GYNECOLOGY December 3,20f6
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https:f/Women4womenobgyn.com LabReport
F e DO 15681 Ins:AETNA OPENACCESSHMO
Tests: (10) itBSAG CONFIRM |51962;
! HBSAG CONTERM Old Not Baport> =3 6
Testsa (11) VITANIN G,25-CHGC:A-.,:A (1"336X)
1 VITANIN D,25-OI1,TOTAL,:A
43 ng/rr.L 30-200 *D
Vitamin D States 25-0H Vitamin Dr
Deficiency: <20 ng/mL
Insufficiencyt 20 - 29 ng/mL
Optimal: > or a 30 ng/mL
Por 25-0H Vitamin D testing on patients on
D2-aupplementation and patienta for whom qttantitation
of D2 and 33 fractions 1,t reaired, the Quostassure")(TM;
26-03 VIT 3, (D2,D3), LC/MS/NS is recommendedr order
code 92008X (patients >2yrs),
Fox more information on this test, go tor
http://education.questdlagnostics.corn/faq/FAQ163
Tests: (12) (182A)
BLOOD GRODD C $30
RH TYPE Positive *39
Testat (13) (182A)
ANTI80DY SCREEN Negative Negative "40
This essay is a screening test for the detection of rod
blood cell antibodies, The test is not Lo be used for
pretransfueion screenian or for the medical rnanagement of
an alloir.e.tunitedpregnancy.
Tests: (14) SMA/FRAG X/CF,CARR $CR (P16992)
I FRAGILE X PCR SE'E NOTE *41
RE8007: FENALE, 23 and 28 CGG REPEATS (NEGATIVE)
Interpretation: The status of the Fragile X locus (FNR1) was
determined by PCR analyses, using DNA isolated fror a h3ood
speci1aen. This individual carring two FNR1 alleles in the
normal size range with approximately 23 and 28 CGG
repeats. Analysis of X and Y chroatosome specific sequencoa
was consistent wi:;h a sample 'rom a "emale individual. The
triplet printed PCR revealed no expanded aHeles. This assay
cannot rule out the possibili:y of a point mutation or gene
rearrangement causing Tragile X syndrome in this patient.
I,aboratory results and submitted clinical information
reviewed by Neng Chen, Ph.Co DABMG, CGNBS.
BACKGROUNDr Fragile X synduc:se iTXS) is caused by mut.ations
in the FMR1 gene (Fragile X Mental Retardation-1). The vast
1
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WOMEN FOR WOMEN OBSTETRIC & GYNECOLOGY December & 2015
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THERESA ROBINS
FemeFe DOB: 15681 Ins; AETNAOPEN ACCESSHMO
majority of cases are caused by the expansion of polymorphic
CGG repeat in the 5 '-catranslated region. s×panalons in the
full mutation size range !see below) are associated with
hypermethylation of che FMRI gene and loss of FNRL gone
activity.
the normal and mutant size ranges fu the FNR1 CGG repeat
are as follows: 5-44 (nor:nal, 45-S4 Inray zone), 55-200
(premutation), and greater than approximately 200 to 930
(full mutation, affected) The distinction between these
. ranges is not absolute. Furtnermore, recent data indicate
that some inale prerautation carriere over the age of 50 years
are affected by a tremor and :novement disorder krtownas
Fragile-X-Assoc!.ated ?rer.or/Ataxia Syndrome (Am J Hum Genet.
2003;72s859-818). In addition, approximately 20% of female
premutation carriers will experience premature ovarian
failure (Am J Med Gen. 2000;9h:99<94).
The FNR1 CGG repeat region is acplified by the polymerase
chain reaction (PCR) in the presence of a ficoroscently
labeled primer. A chromosorco specific region of the
amelogenin gene, which is located on both the X and Y
chromosomes, is co-amplified to provide gender information.
In addition, a second flecrescent PC31 reaction (triplet
prised PCR) is perforn;ed to detect CGG repeat expansions
which may be too large to be amplified by the first PCR.
E1uorescent amplification products are detected by automated
capillary electrophoresis.
Samples positive for PMRI CGG repeata in the preinutation
and/or full mutation site fractions are further analyzed by
$oothern blot analysis to determine the size and mothylation
status of the FNRI CGG repeat.
This test Was developed a::6 its performance characteristics
have been determined by Quest Diagnostics Nichols Institute,
San Juan Capistrace. Ferforctar.ca characteristica refer to
the analytical performance of the test.
http://education.questdiagnos:ics.co-a/faq/tragileX
FRAGILE X SB "Resol-: Belot,." "42
MSULTi TE$T NOT PERFORRED
TNP-Reflex testing not required.
Tests: (15) (P16982)
REPORTED ETilNICITY see note *43
Caucasian
CP,CARhIER SCREEN see note *44
- -- - - NEGATIVS;-NONE- 0F THE MCTAT-IONS--LISTED- --- -- - -
BELOW WERE DETECTED
1 INTERPRETATION aea note 45
This result does n6t rule out the presence of a
F
FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018
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httpeWwomen4womenobáyn.com Lab Report
!
THERESA ROBINSON
Female D0 16881 Ins: AETNA OPENACCESS HMO
mutation or a diagnosis of cystic fibrosis disease
(CF) .The rlak for mutations that cause CF other
than the ones tested depends greatly on family
history, clinical presentation, and ethnicity.
hance of Having a CE Notation
Ethnic Group Detection Before After Hegative
Race Test ResulL
Ashkenazi Jewish 94% 1 in 24 1 in 400
Non-Hispanic 60% 1 in 23 1 in 208
Caucasian
Hispanic-American 72% 1 in 46 1 in 164
African-American 651 1 in 65 1 in 186
Asian-American 49% 1 in 94 I in 184
Other anstf ficlent dat a available
! MUTATIOttS/POLJNORPHISNS
see note '46
G85E (c,254G>A) R334W (c-1000C>T1
394de1TT (c.262delft) R347H {c.1040G>A)
R117H {c.350G>M R3CP ‰104t'G>c)
621+1 G>T (c.489+1G?T) A4552 (c.1364C>A)
711+1 .0>T (c.5794LG>T) 15C76e1 (c.1519de1ATC)
1078de1T (c.948de17) T508de1 (c.1521de1CTT)
V520F (c.1558G>T) R553X (c.165'/c>TI
1717-1 G>A (c.1585-1G>A) R560T (c.1679G>C)
GS42X (c.1624G>T) 1890+1 G>A (c,176621G>A)
5549N (c.1646G>A) E83AA>G (cs2051de1AAin60)
S549R (c.1645A>C or c,1647T>G) 2184de1A (c.2052dejA)
G551D (c.1652G>A) 278955 G>A (c.2657+SG>A)
3120+1 G>A (c,2988-1G>A) W1282X (c.384 6G>A)
R1162X (c,3404C>T) N1303K (c.3909C>G}
3M96e10 (c.3528de10)
3949+10kb C>T (C.3717+12191C>?)
3876de1A (c.3744de1A)
390SinsT (c.37731n42)
This assey detects thirty-wo mutations, including the
twentPthree core nutations recomended by the American
College of Hedical senetica (ACMG) a"4 the American
Congress of Obstetricians and Gynecologists (ACOG) for
population-based CF carrier screening. In addition
to the ACMG/AcoG panel, this assay deteat:s nine
additional mutations. While these notations are rare
in the US population, the scientific and medical
literature indicates that these suta:ions are not
benign polymorphisms. The status of the intron 9
(formerly intzon 8) polyT tract is reported only
when the A117H mutation is detected.
NETHOD. ... .... agg_ogo. ___ +n
The mutations are detected by araitip".ex-polymerage
chain reaction (PCR) amplification of specafic CF
gene regions, followed by nucleotide sequence analysis
FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018
NYSCEF DOC. NO. 143
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FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018 NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021 WOMEN FOR WOMEN OBSTETRIC & GYNECOLOGY December 3. 2015 410 LAKEVILLE RD. NEW HYDE PARK, NY 11042 Page 1 (516) 437-4300Far (516) 502-4348 https://wornen4womenobgyn,oom Office Visll THERESA SINSON Female Dos 1588 t Ins: AETNA OPEN ACCESS HMO 08/28/2015- Offloo Initial Visit: OB Visit Provider:MARNI SANDERS ND Locationof Care: WOMEN FOR WOMEN0BSTETRIC & GYNECOLOGY Blood Neg Billrubin Neg UrobillnogenNeg Ketones Meg ProteinNeg NitrateNeg Glucose Neg pH 6 6,G.1010 Vitals Weight 130 PreviousWeight 122 Blood Pressure 112 / 62 LNP 07/02/2015 OB Chart Notes prior cle- ?mode of deEvery OB initialIntake Information Race: White/Caucasian otatus: Marital Married waltress Type of work: # childrenat home:1 Partner Information Partnerof Mothenderek Menstrual History LMP (date): 07/02/2015 EDC by LMPw 04/07/2016 New BestWorking EDC=® 04/07/2010 Menarche 11 years (age onset): Monses irreg days Interval: Monstrualflow(days)5 days Pronatal Visit FOB name: derek EDC Confirmation: New working EDC: 04/07/2016 - Last mensesonset (LMP) date: 07/02/2015 EDC by LMP: 04/07/2016 FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018 NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021 WOMEN FOR WOMEN OBSTETRIC & GYNECOLOGY Dooember 3,2016 410 LAKl!VILLERD. NEW HYDE PARK , NY 11042 Page 2 Fax: (516) 502.4348 (516) 487-4300 httpsJ/women4wome=bgyncom Office Vish THERESA ROBINSON Female D0 16681 Ins: AETNAOPEN ACCESS HMO UltrasoundDating Informatiom Gest age by curren t sona: 7W 50 EDC by current sono: 04/08/2016 OBUltrasound DataEntry:- Ultrasound Date: 0812612015 Fetai number: 1 cardiacMotion: Yes Measurements: Grown-Rump Length (rnm): 14.4 Dating: Gestational age: 7 weeks. 5 days EDC byacrtogram! 04/08/2018 Best WorldngEDG: 04/07/2016 Past Pregnertcy History Gravide: 6 Pere: 1041 Aborts: 2 Elect. Ab: 1 Ectoples: 1 Pregnancy #1 Delivery dete: 2009 Weeks Gestation: 37 type· Delivery C-Section infant Sex: Male Birth weight 7#5 Common to: Fetal distress, hycanaph os1s- meternal, shtngles, had infertilky treatments, conceivedwith IUl Pregnancy #2 Delivery date: 2010 Delivery type: actopio Commentr LSC- salpingectomy GYNECOLOGlCAL HISTORY: PID/8TD: no Abnormal Pap:.No Cyst: Yea Fibroids: No MENSTRUALHISTORY: . . .. . ._ _. _ _ . Monarche:11 Intervel: Irreg FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018 NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021 WOMEN FOR WOMEN OBSTETRIC & GYNECOLOGY December 3, 2015 410 IAKEVILt.ERD. NEW HYDE PARK NY 11042 Page 3 (616) 437-4300Fax: (616) 5024348 https //women4womenobgyn.com Of fice Visit THERESA ROBINSON Female DO 15681 ins: AETNA OPEN ACCESS HMO Duration: 6 Past History Past MedloalHistory(rsvisWsd- no changes Other medical history Includes: anxiety, required): meningloma. SurgloelHistory(reviewed- no changee required): Patentreports surglool history to Include: DVC ×3, eye surgeries x 3, LSC. octopic asipingectomy.. Pamily History(reviewed- no changes Father is alive. Mother is alive. The patient indicatee required): family history of breast oanoer (mgm), skin cancer (grandmother), diabetes thyroid grandfather), (father, disease (mother). great grandmother- Other family history includes: maternal The patient breast cancer. denies family history of colon cancer. ovarian cancer. SoclelHistory(reviewed•no changes rcqu!rod): She drinks c1 alcoholic She has never smoked. drinks per day. She uses marguana drugs. THERESA is a waitress. with 1 child. She is married Genetic Histoty Father of baby· derek Thalassemia mother:no fatherno Neural tube defect: mother:no father: no Down's Syndrome: mother:no father: no Tay-Sachs: mother no father: no Sicide CeI Dz/Traitmother:no fatherno Hemophills: mothen no fatnecno MuscularDystrophy: mothen no fatherno Cystic Fibroels: mother:no father: no Huntington's Dz: mothen no no father: Mental Retardation:mothec no fathenno Fraglie X: mother no fatherno Other Genetio or Chromosomal D2: mother:no father: yes comments: sister Child with other birth defect: mothen no father: no > 3 spont. abordons: mothen no Hx of stillbirth: mothec no Infection Risk History Patient with history of Genital Harpes· no Sexual partner with history of Genital Harpes: no Syphilie, HPV): no History of STD (GC, Chiemydia, Rash, Viral, or Febrile Illness since I.MP: no re to Cat Litten no Ch Pox immune immune Status: Hx of Disease: Flowshoot Vlow forFollow-up Wsit Estimated weeks of gestation: 7 6/7 Weight 130 FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018 NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021 WOMEN FOR WOMEN OBSTETRIC & GYNECOLOGY December 3, 2015 410 LAKEVILLE RD, NEW HYDE PARK. NY 11042 Page 4 (516) 437-4300Fax: (516) 602-4348 https://women4womenobgyn.com Office Visit THERESA ROBINSON Female DOB: 15681 Ins: AETNAOPEN ACCESS HMO Blood pressure: 112 I 62 Utine protein: Neg Udne glucose: Neg Hx headache? No Nausea/vomiting? freq Edeme? 0 Bleeding? no Leakage/discharge? no Fetal actMty: N/A Labor symptoms? no FHR: 164 Comment: prenatal labs, sequential, mode of delivery discussed Next visit 4 wk Physical Exam'nation Vits!Slans: BP (upright): 112s2 Wt: 130 Last Ht: 66 (08/13/2013) Plan Ordera for today's violt i.Ordered Ofc Vat, Eat Level IV [CPT-99214] 2. OrderedU/A ICPT-81002] 3. Ordered TransvaginaINONOB (CPT-76830] Disposition: Retum to office Next apptdt:1 month ]jit-FamilyJ signed Electronically by MARNI SANDERS MD on 08/26/2016at12:31PM FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018 NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021 WOMEN FOR WOMEN OBSTETRIC & GYNECOLOGV December A 2015 410 LAKEVILLE RD. NEW HYOE PARK. NY 11042 Page 1 (618) 487-4300Far (516) 602-4348 https1/women4womenobgyn.com Office Visit THERESA Female DoB; 16681 ine: AETNAOPEN ACCESS HMO 08/24/2015- Offloe Vieft:initial OS Visit ProvidersMARNI SANDERS MD Locationof Care: WOMEN FOR WOMEN OBSTETRIC & GYiiECOLOGY Blood Neg BRIrobinNeg Utob1nnogen Neg Ketones Neg ProteinNeg NitrateNeg Glucose Neg 6 S.G. 1.010 Vitals Weight 130 Previous Weight 122 Blood Pressure 112 / 62 LMP 07A12/2016 OB ChartNotee prior cJs-7mode of delivesy OB IniSal Intake Information Race! White/Coucasian Maritalstatus:Manted Type of work:waitmas # childrenat home:1 Partner Information Partnerof Mother: derek MenstrumI History LMP (date): 07102/2016 EDC by LMPa 04/07a016 New Best Working EDC••> 04/07/2016 Menerche (age onset): 11 years Menaea interval: Irreg days Monstruel fbw (days)6 days Prenatal Vlett FOB name: derek - -- - GDC Confirmation - - -vviortingEDC: 04/075M6 - - Last menses onset (LMP) date: 07/02/2015 EDC by LMP: 04/074016 FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018 NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021 WOMEN FOR WOMEN OBSTETRIG & GYNECOLOGY December 3, 2015 410 LAKEVillE RD. NEW HYDE PARK, NY 11042 Page 1 (516)437-4300 Fax: (S16) 6024348 httper)/women4Wamsiicbgyn.com Lab Report THERESA ROBINSON Female 00 18881 Ins: AETNA OPEN ACCESSHMO evi2ni¿ûia-Lab Report:CULTUREt$5NS,.URINE Froviden FotderTriage Leeetb::of Cara: Women forWomen Obstaticëand CynscGicgy Patient: THERESA ROBINSOX ID: SUSRISE 15601 Watet All result statuses are Final unlese otherwise noted. Patient Note : Fastinga No Tests ; (1) CULTURE/5EN$, URINE (E2C9) 1 ORINE CULTURE CULTUR5/8ENS,URINE REPORT STATOS: NNAL SOURCE: UMNE CULTURE: NO OR0WIT Notet An exclantation mark (!j irÂLcates a result that was not dispersed J.nto the flowsheet. Documanc Creation Date: 08/27/2015 9:01 PR (1) order result status: r1nal Collectica cr observation date-tizes 08/2d/2015 12:25 Requeated date-time: Receipt date-time; 08/26/2015 17320 Reported date-timer 08/27/2015 20311 Referring Physician.r Ordering Physician t MARNI $ANDERS (TRIAGE) Specimen source Sources SUNMSE filler Order Number: JG789711 Lab site: 1 the following tests had no related values for diapersal to the flowsheet; URINE CULTuRE, (No Value Reported; , (0 signed Electrottlaally eyCHRISTINEiJ OljNCAN NC on 08/28/20tBat2:60PM FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018 NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021 WOMEN FOR WOMEN OBSTETRIC & GYNECOLOGY December 3, 2016 410 LAKEVillE RD. NEW HYOE PARK, NY 11042 Page 1 (616) 437.4300Fax: (618) 502-4348 https://women4womenobgyn.com LebReport THERESA BINSON Female DOB 15681 Ins: AETNAOPEN ACCESSHMO vauum sS - Lab Report: OBSTETRIC PANEL W/RFX, HEMOGLOBINOPATHY ...CF, SMA, FRAGlLE X Providen NICOLE ABELL MD Locationof Care: Women for WomenobstetricsandGyn::±!egy Patient; THERESA ROBINSON 10: LAB RC617206 Note: All result statuses are Tinal unless otherwise noted. Tests: (1) TSH W/REFL TREE 24 (43562Al TSH 2.05 m"*à jL 0.40-4.50 +1 Tests: (2) OBSTETRIC PANSL W/RFX (182A) WBC 9.1 Thous/me; 3.8-10.0 *2 RBC 4.24 N111/mcL 3.00-5.10 *3 HENOGLOBIN 12.8 9/dL 11.7-15.5 *4 HEMATOCRIT 39.? & 35 . 0-4 5 .0 NCV 93.4 80 . 0-100. 0 ' 6 ft NCH 30.1 pg 27.0-33.0 *7 I NCHC 32.2 g/d: 32,0-36.0 *8 ! RDN 12.8 s 11,0-15.0 *9 PLATELET COUNT 214 Tho::s/mcL 140-400 '10 I NPV 10.0 tL 7.5-11.5 -11 I TOTAL NEUTROPilILS,% 70.4 $ 30-80 •12 I TOTAL LYMPHOCYTES,t 21.6 5 15-49 *I3 I NONOCYTES,% 7.2 4 0-13 *14 I EOSINOPHILS,% 0.4 % 0-8 -15 I BASoPHILs,4 0.4 % 0-2 *16 I NEUTROPHILS,ABSOLUTE 6406 Cells/mcL 1500-7800 *17 I LYMPECCYTES,ABSOLUTE '966 Cells/mcL 650-3900 08 I NONOCYTES,ABSOLUTE 655 Colle/met 200-950 "h I EOSINOPHILS,ABSOLUTE 36 Ce'1stacL 15-500 •20 I BASOPHILS,ABSOLOTE 36 Celis/mcL 0-200 '21 I DIFFERENTIAL v22 An instr.1ment differential was performed. Tests: (3) HEMOGLOBINOPATHYEVAL (4011S) ! INTERPRETATION *23 Normal Pattern HENOGLOBIN A 96.4 Percent >96.0 +24 I HENOGLOBIN F C.0 Percent <2.0 *25 I HENOGLOBIN A2 2.6 Percent 1.0-3.5 *26 I HEMOGLOSIN S 0.C Percent 0.0-0.0 -2 1 EENOGLOBIN C 0.0 Percent 0.0-0.0 +28 I HENOGLOBIN VARIANT C.0 Percen: 0.0-0.0 +29 Tests: (4) (182A) HB S AG Non Rea c Live Non Roactivo *30 Tests: (5) (182A) RPR SCREEN Nonreac t i ve Nonreactive *31 Tester (6) FTA-ABS, SERUM (53935) I FTA <3id Kot Report> *32 FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018 NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021 WOMEN FOR WOMEN OBSTETRIC & GYNECOLOGY December 3.2016 410LAKEVlLLE RD. NEW HYDE PARK, NY 11042 Page 2 (816) 437-4300Far (518) 502-4348 https'//women4waa==ahgyn.com Lab Report THERESA ROBINSON Famefe DoB: 16681 Ins:AETNAOPENACCESSHMO Tests: (7) VARICELLA-20STER AB (IGG) (54031E) VARICELLA-EOSTER AB (IGG) 2.57 Index Value >/ 1.10 *33 Index Value Results Interprotation <0.91 Negative - So VZV IgG antibody detected. 0.91-1.09 Equivocal - Proaence or absence of V2V IgG antibody cannot discorned. >a1.10 Positive - "EV IgG antibody detected. A positive result indicates that the patient has antibody to VEV but does not differentiate between infection (active or past) and vaccination. The clinical diagnosis must be interpreted in conjunction with the clinical signs and symptoms of the patient. This assay reliably measures imraunity due to previous infection but may not always be sensitive enough to detect antibodies induced by vaccination. Thus, a negative result in a vaccinated individual does not necessarily indicate susceptibility to VZV infectior.. Tests: (8) (182A) RUBELLA AB (IGG) 2.83 Index value >/=1.10 *34 The presence of Rubella IgG antibody suggests immunization or past or current infection with Rubella virus. Index Value Results Interpretation <0.51 Negative - No RubailaTge andEëdy BëEected. 0.91-1,09 Equivccal - Presence or absenco of Rubella IgG antibody cannot be discerned. >al.10 Foeitive - Rubella IgG antibody detected. Tests: (9) LEAD,BLOOD (56713E] I LEAD,BLoDD <1 acq/dL <10 "35 venous Children 6 yeare and younger < 5 mog/dL Blood lead levels in the range of 5-9 acg/dL have been associated with adverse health effects in children aged 6 years and younger. Patter.t :nanagement varies by age and CDC Blood Level Range. Refer to the CDC website regarding Lead Publicationa!case Kanagement for recommended interventions. Other Individuals > 6 years <10 mog/dL fithout Identifiable Exposure <10 mcg/dL OSHA Industrial Workplace Threshold <40 mogIdL Additional Notes: --- OSHA considere acq/-dL to. be _equivalent. to.mcq/_1ALgrams of whole blood. (Reference 17.13) OSHA provides levels for temporary removal from workplace I due to elevated blood Load, (Reference 17.12) FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018 NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021 WOMEN FOR WOMEN OBBTETRIC & GYNECOLOGY December 3,20f6 410 LAKEVlLLE RD. NEW HYDE PARK NY 11042 Page 3 (516) 437-4300Fax; (616) 502-4348 https:f/Women4womenobgyn.com LabReport F e DO 15681 Ins:AETNA OPENACCESSHMO Tests: (10) itBSAG CONFIRM |51962; ! HBSAG CONTERM Old Not Baport> =3 6 Testsa (11) VITANIN G,25-CHGC:A-.,:A (1"336X) 1 VITANIN D,25-OI1,TOTAL,:A 43 ng/rr.L 30-200 *D Vitamin D States 25-0H Vitamin Dr Deficiency: <20 ng/mL Insufficiencyt 20 - 29 ng/mL Optimal: > or a 30 ng/mL Por 25-0H Vitamin D testing on patients on D2-aupplementation and patienta for whom qttantitation of D2 and 33 fractions 1,t reaired, the Quostassure")(TM; 26-03 VIT 3, (D2,D3), LC/MS/NS is recommendedr order code 92008X (patients >2yrs), Fox more information on this test, go tor http://education.questdlagnostics.corn/faq/FAQ163 Tests: (12) (182A) BLOOD GRODD C $30 RH TYPE Positive *39 Testat (13) (182A) ANTI80DY SCREEN Negative Negative "40 This essay is a screening test for the detection of rod blood cell antibodies, The test is not Lo be used for pretransfueion screenian or for the medical rnanagement of an alloir.e.tunitedpregnancy. Tests: (14) SMA/FRAG X/CF,CARR $CR (P16992) I FRAGILE X PCR SE'E NOTE *41 RE8007: FENALE, 23 and 28 CGG REPEATS (NEGATIVE) Interpretation: The status of the Fragile X locus (FNR1) was determined by PCR analyses, using DNA isolated fror a h3ood speci1aen. This individual carring two FNR1 alleles in the normal size range with approximately 23 and 28 CGG repeats. Analysis of X and Y chroatosome specific sequencoa was consistent wi:;h a sample 'rom a "emale individual. The triplet printed PCR revealed no expanded aHeles. This assay cannot rule out the possibili:y of a point mutation or gene rearrangement causing Tragile X syndrome in this patient. I,aboratory results and submitted clinical information reviewed by Neng Chen, Ph.Co DABMG, CGNBS. BACKGROUNDr Fragile X synduc:se iTXS) is caused by mut.ations in the FMR1 gene (Fragile X Mental Retardation-1). The vast 1 FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018 NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021 WOMEN FOR WOMEN OBSTETRIC & GYNECOLOGY December & 2015 410 LAKEVILLE RD. NEW HYOE PARK, NY 11042 Page 4 (518) 437-4300Fax: (616) 502-4348 https:/Avomen4womenobgyn.corn LabReport THERESA ROBINS FemeFe DOB: 15681 Ins; AETNAOPEN ACCESSHMO majority of cases are caused by the expansion of polymorphic CGG repeat in the 5 '-catranslated region. s×panalons in the full mutation size range !see below) are associated with hypermethylation of che FMRI gene and loss of FNRL gone activity. the normal and mutant size ranges fu the FNR1 CGG repeat are as follows: 5-44 (nor:nal, 45-S4 Inray zone), 55-200 (premutation), and greater than approximately 200 to 930 (full mutation, affected) The distinction between these . ranges is not absolute. Furtnermore, recent data indicate that some inale prerautation carriere over the age of 50 years are affected by a tremor and :novement disorder krtownas Fragile-X-Assoc!.ated ?rer.or/Ataxia Syndrome (Am J Hum Genet. 2003;72s859-818). In addition, approximately 20% of female premutation carriers will experience premature ovarian failure (Am J Med Gen. 2000;9h:99<94). The FNR1 CGG repeat region is acplified by the polymerase chain reaction (PCR) in the presence of a ficoroscently labeled primer. A chromosorco specific region of the amelogenin gene, which is located on both the X and Y chromosomes, is co-amplified to provide gender information. In addition, a second flecrescent PC31 reaction (triplet prised PCR) is perforn;ed to detect CGG repeat expansions which may be too large to be amplified by the first PCR. E1uorescent amplification products are detected by automated capillary electrophoresis. Samples positive for PMRI CGG repeata in the preinutation and/or full mutation site fractions are further analyzed by $oothern blot analysis to determine the size and mothylation status of the FNRI CGG repeat. This test Was developed a::6 its performance characteristics have been determined by Quest Diagnostics Nichols Institute, San Juan Capistrace. Ferforctar.ca characteristica refer to the analytical performance of the test. http://education.questdiagnos:ics.co-a/faq/tragileX FRAGILE X SB "Resol-: Belot,." "42 MSULTi TE$T NOT PERFORRED TNP-Reflex testing not required. Tests: (15) (P16982) REPORTED ETilNICITY see note *43 Caucasian CP,CARhIER SCREEN see note *44 - -- - - NEGATIVS;-NONE- 0F THE MCTAT-IONS--LISTED- --- -- - - BELOW WERE DETECTED 1 INTERPRETATION aea note 45 This result does n6t rule out the presence of a F FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018 NYSCEF DOC. NO. 143 RECEIVED NYSCEF: 06/16/2021 WOMEN FOR WOMlEN OBSTETRIC & GYNECOLOGY December A 2015 410LAKEVILLERD. NEW HYDE PARK. NY 11042 Page 5 (516) 437-4300Far (616)502-4348 httpeWwomen4womenobáyn.com Lab Report ! THERESA ROBINSON Female D0 16881 Ins: AETNA OPENACCESS HMO mutation or a diagnosis of cystic fibrosis disease (CF) .The rlak for mutations that cause CF other than the ones tested depends greatly on family history, clinical presentation, and ethnicity. hance of Having a CE Notation Ethnic Group Detection Before After Hegative Race Test ResulL Ashkenazi Jewish 94% 1 in 24 1 in 400 Non-Hispanic 60% 1 in 23 1 in 208 Caucasian Hispanic-American 72% 1 in 46 1 in 164 African-American 651 1 in 65 1 in 186 Asian-American 49% 1 in 94 I in 184 Other anstf ficlent dat a available ! MUTATIOttS/POLJNORPHISNS see note '46 G85E (c,254G>A) R334W (c-1000C>T1 394de1TT (c.262delft) R347H {c.1040G>A) R117H {c.350G>M R3CP ‰104t'G>c) 621+1 G>T (c.489+1G?T) A4552 (c.1364C>A) 711+1 .0>T (c.5794LG>T) 15C76e1 (c.1519de1ATC) 1078de1T (c.948de17) T508de1 (c.1521de1CTT) V520F (c.1558G>T) R553X (c.165'/c>TI 1717-1 G>A (c.1585-1G>A) R560T (c.1679G>C) GS42X (c.1624G>T) 1890+1 G>A (c,176621G>A) 5549N (c.1646G>A) E83AA>G (cs2051de1AAin60) S549R (c.1645A>C or c,1647T>G) 2184de1A (c.2052dejA) G551D (c.1652G>A) 278955 G>A (c.2657+SG>A) 3120+1 G>A (c,2988-1G>A) W1282X (c.384 6G>A) R1162X (c,3404C>T) N1303K (c.3909C>G} 3M96e10 (c.3528de10) 3949+10kb C>T (C.3717+12191C>?) 3876de1A (c.3744de1A) 390SinsT (c.37731n42) This assey detects thirty-wo mutations, including the twentPthree core nutations recomended by the American College of Hedical senetica (ACMG) a"4 the American Congress of Obstetricians and Gynecologists (ACOG) for population-based CF carrier screening. In addition to the ACMG/AcoG panel, this assay deteat:s nine additional mutations. While these notations are rare in the US population, the scientific and medical literature indicates that these suta:ions are not benign polymorphisms. The status of the intron 9 (formerly intzon 8) polyT tract is reported only when the A117H mutation is detected. NETHOD. ... .... agg_ogo. ___ +n The mutations are detected by araitip".ex-polymerage chain reaction (PCR) amplification of specafic CF gene regions, followed by nucleotide sequence analysis FILED: QUEENS COUNTY CLERK 06/16/2021 01:34 AM INDEX NO. 717964/2018 NYSCEF DOC. NO. 143