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Kennedys Disease (Spino and Bulbar Muscular Atrophy)

SBMA

Test Codes

BAYLOR: 6037, Testing requires pathology approval prior to collection.

Department

Send Outs

Instructions

This test is not included in the Beaumont Laboratory testing formulary, however, the Laboratory can facilitate specimen collection.

• This test requires pathology review. Contact the Send Outs Laboratory at 248-551-9045 before ordering this test.
• Testing requires the ordering physician to complete forms for the independent clinical laboratory performing the testing.
• This test will be billed to the patient's insurance. If not covered by insurance, the patient is responsible for the full cost of testing.
• Specimens received without the appropriate forms and information will not be shipped.
• Once approved, order test as a Miscellaneous Send Outs (XMISC). 

Specimen Collection Criteria

Collect: Two Lavender-top EDTA tubes (Adult) or One Lavender-top EDTA tube (Pediatric), after obtaining necessary pathology approval.

Physician Office/Draw Specimen Preparation

Do not centrifuge. Maintain whole blood at room temperature (20-26°C or 68-78.8°F) prior to transport. Pathology review and all appropriate forms must be completed prior to specimen transport.

Preparation for Courier Transport

Transport: Whole blood with all appropriate forms and information, at room temperature (20-26°C or 68-78.8°F). (Minimum: 3.0 mL)

Rejection Criteria

• Specimens received without prior Laboratory notification and review.
• Specimens not collected and processed as indicated.

In-Lab Processing

Do not centrifuge. Maintain whole blood at room temperature (20-26°C or 68-78.8°F) prior to transport. Pathology review and all appropriate forms must be completed prior to specimen transport.

Transport: Whole blood with all appropriate forms and information, at room temperature (20-26°C or 68-78.8°F). (Minimum: 3.0 mL) 

Storage

Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): 7 days
Refrigerated (2-8°C or 36-46°F): 7 days
Frozen (-20°C/-4°F or below): Unacceptable

Specimen Storage in Department Prior to Disposal:

Specimen retention time is determined by the policy of the reference laboratory. Contact the Send Outs Laboratory with any questions.

Laboratory

Sent to Baylor Genetics, Houston, TX.

Performed

Varies.
Results available in approximately 21 days.

Reference Range

By report.

Test Methodology

Polymerase Chain Reaction (PCR).

Clinical Utility

The mutation responsible for SBMA is an unstable CAG trinucleotide repeat. Normal individuals have up to 34 repeats, while SBMA (KD) patients have 38 or more CAG repeats. Individuals with 35-37 CAG repeats are considered to have reduced penetrance alleles. The presence of a CAG expansion in the androgen receptor gene is virtually diagnostic of SBMA/KD.

CPT Codes

81401

Contacts

Last Updated

10/3/2023