Pontocerebellar Hypoplasia
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000561785.1
INHERITED DISEASEDYSMORPHOLOGYNERVOUS SYSTEM ... View more
Last updated in GTR: 2018-10-10
Last annual review date for the lab: 2023-08-03 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Pontoneocerebellar hypoplasia; Pontocerebellar hypoplasia type 2A; Pontocerebellar hypoplasia type 2B; ...
Genes (6): Help
CASK (Xp11.4), RARS2 (6q15), SEPSECS (4p15.2), TSEN2 (3p25.2), TSEN34 (19q13.42), ...
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; Uni-directional Sanger sequencing
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Institute of Human Genetics
View lab's website
Who can order: Help
  • Licensed Physician
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Informed consent required: Help
Yes
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: 9
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 6
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Sequence analysis of the entire coding region
Uni-directional Sanger sequencing
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed.
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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