Kennedys Disease (Spino and Bulbar Muscular Atrophy)
SBMA, BAYLOR #6037, Testing requires pathology approval prior to collection.
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 Sendout 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 Sendout (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/Drawsite 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). (Min: 3.0 mL)
- Specimens received without prior Laboratory notification and review.
- Specimens not collected and processed as indicated.
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 Sendout Laboratory with any questions.
Sent to Baylor College of Medicine Medical Genetics Laboratory, Houston, TX.
Results available in approximately 21 days.
Polymerase Chain Reaction (PCR).
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.
BAYLOR #6037, Testing requires pathology approval prior to collection.
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This directory currently reflects information only for specimens collected and/or processed at the Farmington Hills,
Grosse Pointe, Royal Oak, and Troy campuses.