Specimen:

Blood

Collection Medium:

Alternate
Collection Media:

Yellow top tube (ACD solution A)

Minimum:

Draw blood in a lavender-top (EDTA) tube(s) or a yellow-top (ACD) tube 
and send 3.0 mL of EDTA or ACD whole blood in original VACUTAINER(S). 
Invert several times to mix blood. Forward unprocessed whole blood 
promptly at ambient temperature.

Rejection Criteria:

Samples greater than 96 hours of age.

Analytic Time:

2 weeks

Reference Range:

An interpretive report will be provided.

Comments:

Please print, complete, and submit the following with the appropriate 
signatures and the correct sample type:

Molecular Genetics - Congenital Inherited Diseases Patient 
Information Sheet

  and the

Informed Consent for DNA Testing from Mayo Medical Laboratories with 
the A-1a Miscellaneous Request.

Blood is sample of choice.  However, Aminoitic Fluid or Chorionic 
Villus can be sent.  Must call Clinical Pathology/Core Laboratory for 
additional directions (356-3527).

Methodology:

Dosage Analysis by Polymerase Chain Reaction (PCR), Multiplex 
Ligation-Dependent Probe Amplification (MLPA) and Luminex Technology. 
(PCR is utilized pursuant to a license agreement with Roche Molecular 
Systems, Inc.)

CPT Code:

83891, 83894, 83900(x2), 83909, 83912,  83914(x15)