Specimen:

Various

Collection Medium:

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

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), 83912