Inherited Metabolic Disorders Panel
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000597411.1
INHERITED DISEASEMETABOLIC DISEASEDYSMORPHOLOGY ... View more
Registered in GTR: 2022-03-15
Last annual review date for the lab: 2022-02-08 Past due LinkOut
At a Glance
Diagnosis
Peroxisome biogenesis disorder 6B; 3 beta-Hydroxysteroid dehydrogenase deficiency; 3-methylcrotonyl-CoA carboxylase 1 deficiency more...
ABCA1 (9q31.1); ABCB11 (2q31.1); ABCB4 (7q21.12); ABCC8 (11p15.1); ABCD1 (Xq28) 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
Dhiti Omics Technologies Private Ltd
View lab's website
Test short name: Help
Metabolic
Who can order: Help
  • Health Care Provider
Test Order Code: Help
DN-07
Test service: Help
Custom Sequence Analysis
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Conditions Help
Total conditions: 376
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 317
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
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
>99% (95% CI) for base substitutions and small indels, and >95% (95% CI) for CNV. Balanced translocations, inversions and intronic variants located outside splice site shall not be detected.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
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.