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Results: 1 to 20 of 16542

Tests names and labsConditionsGenes, analytes, and microbesMethods

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics
United States
11722
  • 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

Prenatal Known Familial Mutation

GeneDx
United States
11716
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Custom XomeDxSlice (2-150 Genes, Proband Only)

GeneDx
United States
11718
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiXpanded Panel

GeneDx
United States
11501
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

Laboratorio de Genetica Clinica SL
Spain
11372
  • E Sequence analysis of select exons

CentoICU Panel

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

MVL Vision Panel

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

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11307
  • C Sequence analysis of the entire coding region

HEREDITARY ATAXIAS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
11202
  • E Sequence analysis of select exons

Two Known Familial Variants in a Nuclear Gene

GeneDx
United States
11043
  • T Targeted variant analysis

Mosaic Carrier Test    

GeneDx
United States
11040
  • T Targeted variant analysis

One Known Familial Variant in a Nuclear Gene

GeneDx
United States
11045
  • T Targeted variant analysis

Parkinson disease 1/4 (PARK1/4, deletion/duplication analysis on SNCA gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Parkinson disease 1/4 (PARK1/4, sequence analysis of SNCA gene)

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

Results: 1 to 20 of 16542

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.