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Test Code MISC2MAYOAJPO Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis, Varies


Shipping Instructions


Specimen preferred to arrive within 72 hours of draw.



Specimen Required


Patient Preparation: 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.

Specimen Type: Whole blood

Container/Tube:

Preferred: Yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 2 full tubes

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tubes.

Additional Information: A patient education brochure (T561) is available upon request.


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions

Secondary ID

35350

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, and Tay-Sachs disease

Additional Tests

Test ID Reporting Name Available Separately Always Performed
NAGAJ Hexosaminidase A and Tot, WBC/AJ No, (Bill Only) Yes

Testing Algorithm

When this test is ordered, hexosaminidase A and total, white blood cells will always be performed at an additional charge.

 

See Tay-Sachs Disease Carrier Testing Protocol in Special Instructions

Method Name

AJPO: Polymerase chain reaction (PCR) analysis is used to test for mutations associated with 8 disorders prevalent in the Ashkenazi Jewish population.

NAGAJ: Heat Inactivation, Fluorometric, Semiautomated

Reporting Name

Ashkenazi Jewish Panel Without CF

Specimen Type

Varies

Specimen Minimum Volume

6 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reject Due To

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

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Tuesday; 10 a.m.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81200-ASPA aspartoacylase (eg, Canavan disease) gene analysis, common variants (eg, E285A, Y231X)

81209-BLM (Bloom syndrome, Rec! helicase-like) (eg, Bloom syndrome) gene analysis, 2281 del6ins7 variant

81242-FANCC (Fanconi anemia, complementation group C) (eg, Fanconi anemia, type C) gene analysis, common variant (eg IVS4+4A->T)

81251-GBA (glucosidase, beta acid) (eg. Gaucher disease) gene analysis, common variants (eg, N370S, 84GG, L444P, IVS2+1G>A)

81255-HEXA (hexosaminidase A (alpha polypeptide) (eg. Tay-Sachs disease) gene analysis, common variants (eg, 1278insTATC, 1421+1G->C, G269S)

81260-IKBKAP (inhibitor of kappa light polypeptide gene enhance in B-cells, kinase complex-associated protein) (eg. Familial dysautonomia) gene analysis common variants (eg, 2507_6T->C, R696P

81290-MCOLN1 (mucolipin 1) (eg. Mucolipidosis, type IV) gene analysis, common variants (eg, IVS3-2A->G, del6.4kb)

81330-SMPD1 (sphingomyelin phosphodiesterase 1, acid sysosomal) (eg, Niemann-Pick disease, Type A) gene analysis, common variants (eg, R496L, L302P, fsP330)

 

83080 Hexosaminidase A and Tot (additional test)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
AJPO Ashkenazi Jewish Panel Without CF In Process

 

Result ID Test Result Name Result LOINC Value
53130 Result Summary 50397-9
53131 Result 82939-0
53132 Interpretation 69047-9
52425 Additional Information 48767-8
53133 Specimen 31208-2
53134 Source 31208-2
53135 Released By 18771-6