3582541744

3582541744



MaterniT Lab Report

GENOME


Scqucnom Laboratories

3595 John Hopkins Court, San Diego. CA 92121


CLIA#: 05D2015356 CAP#: 7527130 Lab Director Phiilip Cacherts. MD. PhD Tal: 877.821.7266


FINAŁ REPORT


Ordering Provider: Provider Location: Provider Phone: Datę Ordered: Datę Collected: Datę Received: Order ID:


Wójcicki, Jakub

Polska Medycyna Prenatalna

+48 791 370 105

04/17/2018

04/17/2018

04/19/2018

ORD18107-01094


Patient:

DOB:

Patient ID: Specimen:

External Accession: Referral Clinician: Datę Reported:


Wolna Pasek, Maria 01/02/1982 pid1071807728 1810700095


04/21/2018 02:38 PM PT


Test Result

Negative

Fetal sex consistent with

Lab Director's Comments

Fetal Fraction: 7%

Genome-wide analysis of this specimen did not detect gains or losses of chromosomal materiał suggestive of whole chromosome aneuploidies, subchromosomal duplications or deletions £7 Mb. or select microdeletions ranging in size below 7Mb. A negative result does not ensure an unaffected pregnancy. Clinical correlation is recommended.


ResuItTable


Content

Result

AUTOSOMAL ANEUPLOIDIES

Trisomy 21 (Down syndrome)

Negative

Trisomy 18 (Edwards syndrome)

Negative

Trisomy 13 (Patau syndrome)

Negative

Other autosomal aneuploidies

Negative

SEX CHROMOSOME ANEUPLOIDIES

Fetal Sex

Consistent with

Monosomy X (Turner syndrome)

Negative

XYY (Jacobs syndrome)

Negative

XXY (Klinefelter syndrome)

Negative

XXX (Triple X syndrome)

Negative

GENOME-WIDE COPY NUMBER VARIANTS ł 7Mb

Gains/Losses i 7 Mb

Negative

SELECT MICRODELETIONS

22q11 deletion (associated with DiGeorge syndrome)

Negative

15q11 deletion (associated with Prader-Willi / Angelman syndrome)

Negative

11q23 deletion (associated with Jacobson syndrome)

Negative

8q24 deletion (associated with Langer-Giedion syndrome)

Negative

5p15 deletion (associated with Cri-du-chat syndrome)

Negative

4p16 deletion (associated with Wolf-Hirschhorn syndrome)

Negative

1p36 deletion syndrome

Negative



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