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Test Mnemonic SDHDZ SDHD Gene, Full Gene Analysis

Useful For

Aiding in the diagnosis of hereditary paraganglioma-pheochromocytoma syndrome associated with pathogenic SDHD 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

SDHD Gene, Full Gene Analysis

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories 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
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly, varies

Performing Laboratory

Mayo Medical 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

81404-SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein) (eg, hereditary paraganglioma), full gene sequence

81403-SDHD duplication/deletion

LOINC Code Information

Result ID Test Result Name Result LOINC Value
37481 Result Summary 50397-9
37482 Result No LOINC Needed
37483 Interpretation 69047-9
37484 Additional Information 48767-8
37485 Specimen 31208-2
37486 Source 31208-2
37487 Released By No LOINC Needed

Forms

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

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

3. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.