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Results: 1 to 20 of 23

Tests names and labsConditionsGenes, analytes, and microbesMethods

Coffin-Siris syndrome Panel

Genetic Services Laboratory University of Chicago
United States
715
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ADNP - 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

Helsmoortel-van der Aa syndrome, 615873, Autosomal dominant; HVDAS (ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder) (ADNP 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

Helsmoortel-van der Aa syndrome, 615873, Autosomal dominant; HVDAS (ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder) (ADNP gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Top 99 Genetic Causes of Developmental Delay Panel

PreventionGenetics, part of Exact Sciences
United States
17099
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Helsmoortel-Van der Aa Syndrome via the ADNP 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

ADNP

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • 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

Intellectual Disability & Autism Spectrum Disorders Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
210139
  • 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

Helsmoortel-van Der Aa Syndrome (ADNP Single Gene Test)

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

Coffin-Siris Syndrome NGS Panel

Fulgent Genetics
United States
8211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HELSMOORTEL-VAN DER AA SYNDROME

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

SPECTRUM AUTISM DISORDER (AUTISM, ASPERGER SYNDROME)

Laboratorio de Genetica Clinica SL
Spain
22
  • C Sequence analysis of the entire coding region

Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes

Reference Laboratory Genetics
Spain
3131
  • C Sequence analysis of the entire coding region

Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes

Reference Laboratory Genetics
Spain
9491
  • C Sequence analysis of the entire coding region

Coffin-Siris Syndrome NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
2222
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 23

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.