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Inherited Metabolic Disorders Panel
Clinical Genetic Test
Help
offered by
Dhiti Omics Technologies Private Ltd
GTR Test Accession: Help GTR000597411.1
INHERITED DISEASEMETABOLIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2022-03-15
View version history
Last annual review date for the lab: 2022-02-08 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (376): Help
Peroxisome biogenesis disorder 6B; 3 beta-Hydroxysteroid dehydrogenase deficiency; 3-methylcrotonyl-CoA carboxylase 1 deficiency; ...
Genes (317): Help
ABCA1 (9q31.1), ABCB11 (2q31.1), ABCB4 (7q21.12), ABCC8 (11p15.1), ABCD1 (Xq28), ...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
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:
How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy
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:
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
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:
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: Not Applicable
Additional Information

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