Galactosemia Known Mutation, Various

Galactosemia Known Mutation

Order Code:	GALACMUT
Epic Lab Code:	LAB3196
Order Form:	A-1a Miscellaneous Request or Epic Req

Commercial Mail-out Laboratory
6240 RCP
356-3527

Specimen:

Various

Collection Medium:

Lavender top tube 3 mL (EDTA)

Minimum:

Submit 1 of the following specimens: Draw blood in a lavender-top (EDTA) tube(s), and send 3.0 mL of EDTA whole blood in original VACUTAINER(S). Invert several times to mix blood. Forward unprocessed whole blood promptly at ambient temperature. Prenatal Specimens - All prenatal specimens must be accompanied by a maternal blood specimen. Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing. Amniotic Fluid (min vol: 0.5 mL) Obtain 20 mL of amniotic fluid. Transfer specimen to 2 screw-capped, sterile centrifuge tubes. Send specimen refrigerated. Specimen cannot be frozen. Chorionic Villus (min vol: 5 mg) Obtain 20 mg of chorionic villus specimen. Send specimen refrigerated in transport media in 15-mL centrifuge tube. Specimen cannot be frozen.

Specimen Instructions:

Specimen must arrive reference laboratory within 96 hours of collection.

Analytic Time:

2 weeks upon receipt at reference laboratory

Reference Range:

An interpretive report will be provided.

Test Limitations:

This test can only be performed if a mutation has previously been identified in a family member of this individual.

Methodology:

Direct Mutation Analysis by Polymerase Chain Reaction (PCR)

CPT Code:

83890, 83894(x2), 83896, 83898(x2), 83909(x4)