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Test ID SDHP SDHB, SDHC, SDHD Gene Panel

Useful For

Aiding in the diagnosis of hereditary paraganglioma-pheochromocytoma syndrome associated with SDHB, SDHC, and SDHD gene mutations

Genetics Test Information

Testing includes full gene sequencing of the SDHB, SDHC, SDHD genes and multiplex ligation-dependent probe amplification for the detection of large deletions and duplications within the SDHB, SDHC, SDHD genes.

Method Name

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

Reporting Name

SDHB, SDHC, SDHD Gene Panel

Specimen Type

Varies

Specimen Required

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.

Additional Information: Specimen preferred to arrive within 96 hours of collection.

Forms:

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

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

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 (Supply T576) is available in Special Instructions.

4. If not ordering electronically, complete, print, and send an Oncology Test Request Form (T729) with the specimen

(http://www.mayomedicallaboratories.com/it-mmfiles/oncology-request-form.pdf)

Specimen Minimum Volume

Blood: 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

81403 x 2

81404 x 2

81405 x 2

LOINC Code Information

Result ID Test Result Name Result LOINC Value
37460 Result Summary 50397-9
37461 Result No LOINC Needed
37462 Interpretation 69047-9
37463 Additional Information 48767-8
37464 Specimen 31208-2
37465 Source 31208-2
37466 Released By No LOINC Needed