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Test Code SDHBZ SDHB Gene, Full Gene Analysis, Varies

Useful For

Aiding in the diagnosis of hereditary paraganglioma-pheochromocytoma syndrome associated with pathogenic SDHB gene variants

Method Name

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis and Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

Reporting Name

SDHB Gene, Full Gene Analysis

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of draw.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reject Due To

All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly, Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81405-SDHB (succinate dehydrogenase complex, subunit B, iron sulfur) (eg, hereditary paraganglioma), full gene sequence

81403-SDHB duplication/deletion

LOINC Code Information

Test ID Test Order Name Order LOINC Value
SDHBZ SDHB Gene, Full Gene Analysis 82530-7

 

Result ID Test Result Name Result LOINC Value
37467 Result Summary 50397-9
37468 Result 82939-0
37469 Interpretation 69047-9
37470 Additional Information 48767-8
37471 Specimen 31208-2
37472 Source 31208-2
37473 Released By 18771-6

Forms

1. SDHB, SDHC, SDHD Gene Testing Patient Information (T659) in Special Instructions is required.

2. Informed Consent for Genetic Testing (T576) in Special Instructions is required.

3. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)