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ASHKENAZI JEWISH MUTATION ANALYSIS PANEL WITHOUT CYSTIC FIBROSIS (CF)

Mnemonic

AJ PAN

Includes

Panel includes the following disorders: 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. Specific detection rates for the Ashkenazi Jewish population are provided.

Guidelines

Specimen Collection Requirements

Collect

Whole blood, two yellow (ACD) top tubes

Handling

Invert several times to mix blood. Send specimen in original tubes. Specimen must arrive at Mayo Medical Laboratories within 72 hours of draw.

Preferred Volume

10.0 mL

Minimum Volume

6.0 mL

Transport

Room temperature

Rejection Criteria

Any anticoagulant other than ACD

Stability

Ambient: 72 hours

Testing Information

Performed

Tue

Reported

10-14 days

Method

Polymerase chain reaction (PCR) and Heat inactivation, Fluorometric

Referral Lab

Mayo Medical Laboratories (AJPWO)

Reference Values

Reference Values

Interpretation provided.

CPT Codes

81200, 81290, 81260, 81255, 81251, 81242, 81209, 81330, 83080

Last Updated: Thursday, March 14, 2019 12:50:24 PM


Client Services: 503-413-1234