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Paediatric Laboratory Medicine

Ashkenazi Jewish Screening Panel

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.

Test Name

Ashkenazi Jewish Screening Panel

Gene Name

  • BLM
  • ASPA
  • IKBKAP
  • FANCC
  • MCOLN1
  • SMPD1
  • HEXA

Test Code

AJPANEL

Division

Molecular Genetics

Method

Targeted analysis of recurrent mutations

External Proficiency Testing

CAP

Turn Around Time

2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine)

Disease/Condition

Includes: 

  • Bloom syndrome
  • Canavan disease
  • Familial Dysautonomia
  • Fanconi Anemia
  • Mucolipidosis IV
  • Niemann-Pick disease
  • Tay-Sachs disease

Specimen Type

Blood; gDNA

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

Minimum Specimen Requirements

5-10 mL EDTA or ACD0.5 mL EDTA (neonate); minimum 10 ug in 100 uL low TE (pH8.0)

Storage/Transportation

Room Temperature

Special Requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Approval is not required

CPT Codes

81479

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Canada
Phone: 416-813-7200
Phone: 1-855-381-3212

Interpretation

Interpretation is provided in report