Inheritest Custom 1;13 Genes
GTR Test Accession: Help GTR000603560.2
INHERITED DISEASEHEMATOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2023-03-22
Last annual review date for the lab: 2024-08-09 LinkOut
At a Glance
Diagnosis; Screening
alpha Thalassemia; Autosomal recessive distal spinal muscular atrophy 1; Bloom syndrome more...
BLM (15q26.1); ELP1 (9q31.3); FANCC (9q22.32); FMR1 (Xq27.3); GBA1 (1q22) more...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
MNG Laboratories (Medical Neurogenetics, LLC.)
View lab's website
View lab's test page
Test short name: Help
630328
Specimen Source: Help
  • Buccal swab
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
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
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Custom Sequence Analysis
Genetic counseling
Result interpretation
Test additional service: Help
Custom mutation-specific/Carrier testing
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:
Conditions Help
Total conditions: 12
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 12
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Screening
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Variants are identified and evaluated using a proprietary collection of bioinformatic tools and comprehensively interpreted.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Analytical Validity: Help
greater than 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
A proprietary collection of bioinformatics tools.

Laboratory's policy on reporting novel variations Help
Following extensive investigation, variants that cannot be located in published literature or databases are reported as novel variations.
Recommended fields not provided:
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.