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Results: 21 to 40 of 41

Tests names and labsConditionsGenes, analytes, and microbesMethods

Skeletal Disorders Panel

Baylor Genetics
United States
1354
  • 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

Hereditary ataxias panel_v.2.0

CGC Genetics Unilabs
Portugal
1427
  • C Sequence analysis of the entire coding region

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

Cataract Panel 

CGC Genetics Unilabs
Portugal
1118
  • C Sequence analysis of the entire coding region

Bone diseases panel_v.2.0

CGC Genetics Unilabs
Portugal
1662
  • C Sequence analysis of the entire coding region

Spondylo-ocular syndrome (sequence analysis of XYLT2 gene)

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

Skeletal Diseases Panel

Mendelics
Brazil
1333
  • C Sequence analysis of the entire coding region

CONGENITAL CATARACTS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1120
  • E Sequence analysis of select exons

SKELETAL DYSPLASIAS PANEL

Laboratorio de Genetica Clinica SL
Spain
1643
  • E Sequence analysis of select exons

Elastic pseudoxanthoma. Panel NGS genes: ABCC6, GGCX, XYLT1, XYLT2.

Genologica Medica
Spain
74
  • 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

Stroke (NGS Panel and Copy Number Analysis + mtDNA)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
385
  • 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

Spondyloocular syndrome

Molecular Diagnostics Lab Nemours Children's Health, Delaware
United States
11
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta and Genetic Bone Disorders Panel

Collagen Diagnostic Laboratory University of Washington
United States
2730
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

OI panel 2

Connective Tissue Laboratory Ghent University Hospital
Belgium
119
  • C Sequence analysis of the entire coding region

XYLT2 Single Gene

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

Results: 21 to 40 of 41

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.