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Results: 21 to 40 of 55

Tests names and labsConditionsGenes, analytes, and microbesMethods

ABHD12 Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

ABHD12 Comprehensive - Sequence & Deletion/Duplication Analysis

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

Comprehensive Hearing Loss + mtDNA

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
218300
  • C Sequence analysis of the entire coding region

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract (sequence analysis of ABHD12 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Hereditary ataxias. NGS panel of 139 genes.

Genologica Medica
Spain
220139
  • C Sequence analysis of the entire coding region

Ataxia panel. NGS panel of 157 genes.

Genologica Medica
Spain
247156
  • C Sequence analysis of the entire coding region

Retinitis pigmentosa panel

Genologica Medica
Spain
164108
  • C Sequence analysis of the entire coding region

Retinal dystrophy panel. 260 gene NGS panel.

Genologica Medica
Spain
420257
  • C Sequence analysis of the entire coding region

ABHD12 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

Congenital Cataracts NGS Panel

Fulgent Genetics
United States
10656
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Syndromic Hearing Loss NGS Panel

Fulgent Genetics
United States
22383
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hearing Loss NGS Panel

Fulgent Genetics
United States
332167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinopathy and Optic Atrophy NGS Panel

Fulgent Genetics
United States
563241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early-Onset Ataxia NGS Panel

Fulgent Genetics
United States
505132
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Late-Onset Ataxia NGS Panel

Fulgent Genetics
United States
13356
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia NGS Panel

Fulgent Genetics
United States
533149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hearing Loss Advanced Sequencing and CNV Evaluation

Athena Diagnostics
United States
249181
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
10392
  • C Sequence analysis of the entire coding region

Eye diseases comprehensive panel

Asper Biogene Asper Biogene LLC
Estonia
367291
  • C Sequence analysis of the entire coding region

ABHD12 single-gene sequencing 

Molecular Vision Laboratory
United States
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 21 to 40 of 55

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.