Classic view of this page
Hereditary Phaeochromocytoma/Paraganglioma Syndromes (MAX, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL)
Clinical Genetic Test
Help
offered by
Molecular Genetics Laboratory - Diagnostics Genetics
View lab's test page
LinkOut
GTR Test Accession: Help GTR000332421.5
ENDOCRINOLOGYINHERITED DISEASECANCER ... View more
Last updated in GTR: 2021-04-07
View version history
Last annual review date for the lab: 2022-11-28 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic
Conditions (6): Help
Hereditary pheochromocytoma-paraganglioma; Carney-Stratakis syndrome; Paragangliomas 1 more...
Genes (7): Help
MAX (14q23.3); SDHAF2 (11q12.2); SDHB (1p36.13); SDHC (1q23.3); SDHD (11q23.1) more...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Microarray; ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Genetics Laboratory - Diagnostics Genetics
View lab's website
View lab's test page
Specimen Source: Help
  • Amniocytes
  • Buccal swab
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Dried blood spot (DBS) card
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Saliva
  • Skin
  • Sputum
  • Urine
  • White blood cell prep
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, How to Order, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 6
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 7
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Microarray
Agilent Custom Array
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3500 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No.
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
Deletion/duplication analysis uses a custom array that targets all coding exons.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The sequences (in the forward and reverse direction) of the coding regions and flanking upstream and downstream 20 bases of the adjacent introns were analysed using Variant Reporter Software. The report has used sequences that have a minimum trace score of 35 which corresponds to an average false base call … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.