Classic view of this page
C9orf72
Clinical Genetic Test
Help
offered by
Molecular Genetics Laboratory
GTR Test Accession: Help GTR000512230.2
INHERITED DISEASENERVOUS SYSTEMPSYCHIATRIC ... View more
Last updated in GTR: 2015-04-13
View version history
Last annual review date for the lab: 2024-04-16 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Pre-symptomatic; Predictive
Conditions (1): Help
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Genes (1): Help
C9orf72 (9p21.2)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Target population: Help
Not provided
Clinical validity: Help
Approximately 30% of familial ALS patients and 19% of familial …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Genetics Laboratory
View lab's website
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
Lab contact: Help
Susan Christian, PhD, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
780-407-1015
Pamela Blumenschein, MS, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
780-407-1015
Margaret Lilley, MSc, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
780-407-1015
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.
How to Order: Help
Please contact the laboratory for a requisition form and shipping information.
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, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic; Predictive
Clinical validity: Help
Approximately 30% of familial ALS patients and 19% of familial frontotemporal lobar degeneration patients will have an expansion of C9orf72.
Recommended fields not provided:
Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This assay has a sensitivity of >99% for expansions in the C9orf72 gene.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
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
Not provided
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.