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Results: 1 to 20 of 88

Tests names and labsConditionsGenes, analytes, and microbesMethods

SMN1 Gene Spinal muscular atrophy type 4 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

PNPT1 Gene Combined oxidative phosphorylation deficiency type 13 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

PNPT1 Gene Deafness, autosomal recessive type 70 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

OtoSCOPE v9

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
287218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Genomic Unity® Hearing Loss Disorders Analysis

Variantyx, Inc.
United States
1318
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis

Variantyx, Inc.
United States
1335
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

AudioloGene Hearing Loss Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1200
  • C Sequence analysis of the entire coding region

Nuclear Mitochondrial Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1221
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Combined mtDNA+Nuclear Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
12221
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • E Sequence analysis of select exons

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

PNPT1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMito Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
406414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia / Spastic Paraplegia Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
451452
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia / Spastic Paraplegia Panel

Centogene AG - the Rare Disease Company
Germany
442443
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoHear Panel

Centogene AG - the Rare Disease Company
Germany
203194
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
971680
  • D Deletion/duplication analysis

Results: 1 to 20 of 88

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.