Osteogenesis Imperfecta Panel, Comprehensive
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000569562.1
INHERITED DISEASEDYSMORPHOLOGYMUSCULOSKELETAL ... View more
Last updated in GTR: 2019-11-15
Last annual review date for the lab: 2023-10-13 LinkOut
At a Glance
Diagnosis
Adult hypophosphatasia; Bruck syndrome 1; Bruck syndrome 2; ...
ALPL (1p36.12), BMP1 (8p21.3), COL1A1 (17q21.33), COL1A2 (7q21.3), CRTAP (3p22.3), ...
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
CNH Molecular Diagnostics Laboratory
View lab's website
Test Order Code: Help
MO0042
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: 23
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
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical sensitivity of NGS sequencing is estimated to be > 99% at detecting single nucleotide events. It will not reliably detect deletions greater than 20 base pairs, insertions or rearrangements greater than 10 base pairs, or low-level mosaicism.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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