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Results: 1 to 20 of 27

Tests names and labsConditionsGenes, analytes, and microbesMethods

Genomic Unity® X-Linked Intellectual Disability Plus Analysis

Variantyx, Inc.
United States
1108
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Tempus xT

Tempus AI - RTP
United States
2647
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

Hereditary Cancer Screening - Colorectal & Gastric Cancer Panel (including Pancreatic Cancer) - (43 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
5843
  • X Mutation scanning of select exons

Hereditary Cancer Screening - Renal/Urinary Tract Cancer Panel (Including prostate and kidney cancer) - (39 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
4039
  • X Mutation scanning of select exons

Hereditary Cancer Screening - Full Hereditary Cancer Panel (99 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
10999
  • X Mutation scanning of select exons

CEP57 Gene Mosaic variegated aneuploidy syndrome type 2 NGS Genetic DNA Test

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

Tempus xT

Tempus AI - CHI
United States
2647
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

CEP57 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mosaic variegated aneuploidy syndrome 2, 614114, Autosomal recessive; MVA2 (Mosaic variegated aneuploidy syndrome) (CEP57 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • 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

Mosaic Variegated Aneuploidy Syndrome via the CEP57 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Intellectual Disability Panel

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

Hereditary Cancer Panel (Complete)

Mendelics
Brazil
1264
  • C Sequence analysis of the entire coding region

HEREDITARY CANCER EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1249
  • E Sequence analysis of select exons

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

Microcephaly Xpanded Panel

GeneDx
United States
1877
  • D Deletion/duplication analysis
  • 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

Mosaic variegated aneuploidy syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
33
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 27

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.