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Results: 1 to 17 of 17

Tests names and labsConditionsGenes, analytes, and microbesMethods

Pontocerebellar Hypoplasia Panel

PreventionGenetics, part of Exact Sciences
United States
1412
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pontocerebellar Hypoplasia via the VRK1 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Arthrogryposis Panel    

GeneDx
United States
15691
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

VRK1 - Gene sequencing

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
11
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy NGS Panel

Fulgent Genetics
United States
9329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Arthrogryposis NGS Panel

Fulgent Genetics
United States
17560
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Plus Panel

Fulgent Genetics
United States
716335
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Panel

Fulgent Genetics
United States
636298
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Plus Panel

Fulgent Genetics
United States
661306
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Panel

Fulgent Genetics
United States
690326
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Brain malformations

Asper Biogene Asper Biogene LLC
Estonia
318252
  • C Sequence analysis of the entire coding region

VRK1 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular NGS Panel

Fulgent Genetics
United States
259112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microcephaly NGS Panel

Fulgent Genetics
United States
32275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cerebellar Hypoplasia NGS Panel

Fulgent Genetics
United States
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pontocerebellar Hypoplasia NGS Panel

Fulgent Genetics
United States
119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.