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Results: 1 to 19 of 19

Tests names and labsConditionsGenes, analytes, and microbesMethods

KMT5B - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • 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

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autism Spectrum Disorders (ASD) Panel

PreventionGenetics, part of Exact Sciences
United States
224170
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Autism Spectrum Disorders via the KMT5B (SUV420H1) 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

Neurodevelopmental Disorders Panel

Baylor Genetics
United States
1236
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

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

Autism Spectrum Disorders Panel

CGC Genetics Unilabs
Portugal
1107
  • C Sequence analysis of the entire coding region

Autism Panel

Mendelics
Brazil
143
  • C Sequence analysis of the entire coding region

Autism Spectrum Disorders Panel. NGS panel of 26 genes.

Genologica Medica
Spain
3926
  • 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

Autism/ID Xpanded Panel

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

Mental retardation, autosomal dominant: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
6261
  • C Sequence analysis of the entire coding region

Autism Spectrum Disorders Panel

Blueprint Genetics
Finland
126
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KMT5B Single Gene

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

Clinical Exome

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

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.