Ashkenazi Jewish Screening Panel

Alternate test name

Includes: Bloom syndrome, Canavan disease, Familial Dysautonomia, Fanconi Anemia, Mucolipidosis IV, Niemann-Pick disease,Tay-Sachs disease

Gene name / Alternate gene name

BLM
ASPA
IKBKAP
FANCC
MCOLN1
SMPD1
HEXA

Lab area

Genome Diagnostics - Molecular Genetics

Method and equipment

Targeted analysis of recurrent mutations

Expected turn-around time

Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks

Specimen type

Blood; gDNA

For details about specimen requirements, please refer to Specimen Type & Requirements (PDF).

Specimen requirements

Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
DNA-minimum 10 ug in 100 uL low TE (pH8.0)

Storage and transportation

Room Temperature

For details about specimen requirements, please refer to: Specimen Type and Requirements

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information

The Hospital for Sick Children

Division of Genome Diagnostics

555 University Avenue, Black Wing, Room 3416

Toronto, ON

Canada

M5G 1X8

Phone: 416-813-7200 ext. 2

Hours: Monday to Friday, 8 a.m. to 4:30 p.m.

Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642

Email Molecular Lab: molecular.lab@sickkids.ca

Email Cytogenetics: cytogenetics.requests@sickkids.ca

Requisition

Ashkenazi Jewish Screening Panel - requisition

Background and clinical significance

The Ashkenazi Jewish screening panel currently consists of testing for seven diseases common in the Ashkenazi Jewish population: Bloom syndrome (BLM), Canavan disease (CVN), Familial dysautonomia (FD), Fanconi anemia group C (FA-C), mucolipidosis type IV (MLP4), Niemann Pick disease type A & B (NP) and Tay-Sachs (TSD) disease. Although these conditions have been reported in individuals of various ethnic backgrounds, these diseases occur most frequently in people of Ashkenazi Jewish ancestry. These conditions present when a child receives two copies of an altered gene, one from each parent. Any person with one copy of an altered gene is a carrier of that disease. Carriers are not affected themselves and will not develop the disease. However, if their partner is also a carrier for the same disease, there is a one in four chance (25%) that their baby will be born with the disease condition. There is a three in four chance (75%) that their baby will not have the disease condition.

See related information sheet Ashkenazi Jewish Screening Panel

Disease condition

Includes: