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Results: 21 to 38 of 38

Tests names and labsConditionsGenes, analytes, and microbesMethods

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Movement diseases (WES based NGS panel of 931 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
10930
  • C Sequence analysis of the entire coding region

Epilepsy panel_v.2.0

CGC Genetics Unilabs
Portugal
1759
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

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

Immunodeficiencies and Immunologic Diseases Panel (Complete)

Mendelics
Brazil
1397
  • C Sequence analysis of the entire coding region

Metabolic epilepsy panel. 41-gene NGS panel.

Genologica Medica
Spain
5341
  • C Sequence analysis of the entire coding region

Complete epilepsy panel. NGS panel of 283 genes.

Genologica Medica
Spain
409283
  • C Sequence analysis of the entire coding region

Congenital disorder of glycosylation, type 2: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
2020
  • C Sequence analysis of the entire coding region

Autism Spectrum Gene Panel

Duzen Laboratories Duzen BBAGUAS
Turkey
1160
  • 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

Congenital Hypotonia Xpanded Panel

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

Nonsyndromic Intellectual Disability (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
19560
  • 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

EpiXpanded Panel

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

Congenital disorders of glycosylation, type II: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1717
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy Panel

Blueprint Genetics
Finland
4283
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metabolic Epilepsy Panel

Blueprint Genetics
Finland
841
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SLC39A8 Single Gene

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

Results: 21 to 38 of 38

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.