Laboratory Services

Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis, Varies

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Updated Test Information:

Test Description
Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis, Varies
Synonym(s)

AJ Panel; Bloom syndrome; Canavan disease; Familial dysautonomia; Fanconi anemia; Gaucher disease; Jewish Panel; Mucolipidosis type IV; AJPWO; Niemann-Pick types A and B; Tay-Sachs disease; ASPA; MCOLN1; IKBKAP; HEXA; GBA; FANCC; BLM; SMPD1

Test ID
AJPO
General Information

Useful for carrier screening in individuals of Ashkenazi Jewish ancestry for:



  • Bloom syndrome

  • Canavan disease

  • FANCC-related Fanconi anemia

  • familial dysautonomia

  • Gaucher disease

  • mucolipidosis IV

  • Niemann-Pick disease types A and B

  • Tay-Sachs disease

Container Type

Send specimen in original tubes

Specimen Type

Whole Blood

Specimen Requirements

  • Preferred: Yellow Top (ACD)

  • Acceptable: Any anticoagulant

Unacceptable Specimen Conditions

All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.

Limitations

  • This assay will not detect all of the mutations that cause these 8 diseases. Therefore, the absence of a detectable mutation does not rule out the possibility that an individual is a carrier of or affected with 1 or more of the listed diseases.

  • Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.

  • Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.

  • In rare cases, DNA alterations of undetermined significance may be identified.

  • A previous bone marrow transplant from an allogenic donor will interfere with testing. Call
    800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Methodology

  • AJPO: Polymerase chain reaction (PCR)

  • NAGAJ: Heat Inactivation, Fluorometric, Semiautomated

Estimated TAT

9-12 days

Testing Schedule

Tuesday

Test Includes

  • Result Summary

  • Interpretation

  • Hexosaminidase A and Tot, WBC/AJ**


**WBC Hexosaminidase (A & Total) is performed for an additional charge.

Retention

  • Whole Blood: 2 weeks

  • Extracted DNA: 3 months

CPT Code(s)

81200, 81209, 81242, 81251, 81255, 81260, 81290, 81330

Additional Information
Minimum Sample Volume

6 mL

Reference Range
Disease Carrier Rate (AJ Population) Mutation Detection Rate (%)

Gaucher

1/18 95
Tay-Sachs 1/31 99*
Familial dysautonomia 1/31 99
Canavan 1/41 98
Mucolipidosis IV 1/127 95
Niemann-Pick type A/B 1/90 97
FANCC-related Fanconi anemia 1/89 > 99
Bloom Syndrome 1/107 > 99 

*with biochemical testing

Performing Lab

Mayo

LOINC Code(s)

50397-9, 82939-0, 69047-9, 48767-8, 31208-2, 31208-2, 18771-6