HERC2 Defect Syndrome Targeted Testing
GTR Test Accession: Help GTR000552585.6
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2019-12-05
Last annual review date for the lab: 2024-02-05 LinkOut
At a Glance
Diagnosis
Developmental delay with autism spectrum disorder and gait instability
Genes (1): Help
HERC2 (15q13.1)
Molecular Genetics - Targeted variant analysis: Uni-directional Sanger sequencing
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
DDC Clinic Molecular Diagnostics Laboratory
View lab's website
View lab's test page
Test short name: Help
HERC2 Targeted
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
Test Order Code: Help
HERC2 Targeted
Lab contact: Help
Heng Wang, MD, PhD, ABP, Lab Director
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom mutation-specific/Carrier testing
Informed consent required: Help
Based on applicable state law
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: 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 *
Targeted variant analysis
Uni-directional Sanger sequencing
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Test Comments: Help
Targeted testing is performed for Old Order Amish common pathogenic variant, HERC2 c.1781C>T.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99-100% Detection Rate
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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