C9orf72-related disorders - Clinical Genetic Test - GTR

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C9orf72-related disorders

Clinical Genetic Test

offered by

Molecular Genetics Laboratory

GTR Test Accession: GTR000613315.1

NERVOUS SYSTEMINHERITED DISEASEPSYCHIATRIC ... View more

Registered in GTR: 2024-07-19

Last annual review date for the lab: 2024-07-22

At a Glance

Test purpose:

Diagnosis; Pre-symptomatic; Predictive

Conditions (3):

Huntington disease-like syndrome due to C9ORF72 expansions; Amyotrophic lateral sclerosis; Frontotemporal dementia

Genes (1):

C9orf72 (9p21.2)

Methods (1):

Molecular Genetics - Targeted variant analysis: Hexanucleotide repeat expansion by PCR

Target population:

Not provided

Clinical validity:

Not provided

Clinical utility:

Not provided

Ordering Information

Offered by:

Molecular Genetics Laboratory
View lab's website

Test short name:

C9orf72

Manufacturer's name:

Asuragen AmplideX PCR/CE C9orf72 kit

Specimen Source:

Isolated DNA
Peripheral (whole) blood

Who can order:

Health Care Provider

Test Order Code:

C9orf72

Contact Policy:

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:

Order URL

Test service:

Clinical Testing/Confirmation of Mutations Identified Previously

Test development:

Manufactured (research use only; not FDA-reviewed)

Informed consent required:

Yes

Pre-test genetic counseling required:

Post-test genetic counseling required:

Recommended fields not provided:

Lab contact for this test, Test strategy

Conditions

Total conditions: 3

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 1

Gene	Associated Condition	Germline or Somatic	Allele (Lab-provided)	Variant in NCBI

Methodology

Total methods: 1

Method Category

Test method

Instrument *

Targeted variant analysis

Hexanucleotide repeat expansion by PCR

* Instrument: Not provided

Clinical Information

Test purpose:

Diagnosis; Pre-symptomatic; Predictive

Variant Interpretation:

Are family members with defined clinical status recruited to assess significance of VUS without charge?
No.

Will the lab re-contact the ordering physician if variant interpretation changes?
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 Platform:

None/not applicable

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

Sensitivity >99%, Specificity >99%

Proficiency testing (PT):

Is proficiency testing performed for this test?
Yes

Method used for proficiency testing:
Inter-Laboratory

PT Provider:
Prevention Genetics

Recommended fields not provided:

Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list

Regulatory Approval

FDA Review:

Not provided

Additional Information

Reviews:

PubMed Clinical Queries

Clinical resources:

Consumer resources:

NCATS Office of Rare Diseases Research (GARD)

MedlinePlus

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.