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Cartilage-hair hypoplasia, 250250, Autosomal recessive; CHH (Cartilage-hair hypoplasia) (RMRP gene) … see more Cartilage-hair hypoplasia, 250250, Autosomal recessive; CHH (Cartilage-hair hypoplasia) (RMRP gene) (Sequence Analysis-All Coding Exons) (Postnatal)  see less
Clinical Genetic Test
Help
offered by
Intergen
GTR Test Accession: Help GTR000585698.1
IMMUNOLOGYINHERITED DISEASECONNECTIVE TISSUE ... View more
Registered in GTR: 2020-05-19
View version history
Last annual review date for the lab: 2024-11-15 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Metaphyseal chondrodysplasia, McKusick type
Genes (1): Help
RMRP (9p13.3)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Cartilage-hair hypoplasia, 250250, Autosomal recessive; CHH (diagnosis/ clinical suspition/ etiology …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Intergen
View lab's website
Test Order Code: Help
2663
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:
How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
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 *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Cartilage-hair hypoplasia, 250250, Autosomal recessive; CHH (diagnosis/ clinical suspition/ etiology investigation/ classification)
Recommended fields not provided:
Clinical validity, 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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sensitivity of this method was reported as 99,9996%. This value may change in some special DNA regions
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

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