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PDE6D Gene Joubert syndrome type 22 NGS Genetic DNA Test
Clinical Genetic Test
Help
offered by
DNA Labs India
View lab's test page
LinkOut
GTR Test Accession: Help GTR000605775.1
INHERITED DISEASE
Registered in GTR: 2023-04-27
View version history
Last annual review date for the lab: 2024-07-01 LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (1): Help
Hereditary disease
Genes (1): Help
PDE6D (2q37.1)
Methods (1): Help
Molecular Genetics - Mutation scanning of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Patients with rare disease condition
Clinical validity: Help
This panel should be performed in all individuals suspected of …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
DNA Labs India
View lab's website
View lab's test page
Test short name: Help
PDE6D Gene Joubert syndrome type 22 NGS Genetic DNA Test
Manufacturer's name: Help
PDE6D Gene Joubert syndrome type 22 NGS Genetic DNA Test
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
Lab contact: Help
Ravi Kiran Reddy P, PhD, Lab Director
[email protected]
+91 40 39517864
How to Order: Help
Just place order online with doctor prescription
Order URL
Test development: Help
FDA-reviewed (has FDA test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Test Order Code, Contact policy, Test strategy
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
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Clinical Information
Test purpose: Help
Screening
Clinical validity: Help
This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk … View more
Target population: Help
Patients with rare disease condition
Recommended fields not provided:
Clinical utility, 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 Procedure: Help
Human Whole Exome Sequencing
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy and specificity>99%
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
Practice guidelines:
Consumer resources:

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.