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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

Infertility Panel

Centogene AG - the Rare Disease Company
Germany
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SETBP1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

Inherited Bone Marrow Failure Panel

PreventionGenetics, Part of Exact Sciences
United States
268187
  • 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

Mental retardation, autosomal dominant 29, 616078, Autosomal dominant; MRD29 (Intellectual disability-expressive aphasia-facial dysmorphism syndrome) (SETBP1 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

Mental retardation, autosomal dominant 29, 616078, Autosomal dominant; MRD29 (Intellectual disability-expressive aphasia-facial dysmorphism syndrome) (SETBP1 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

Hypospadias Panel

PreventionGenetics, Part of Exact Sciences
United States
15673
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ambiguous Genitalia Panel

PreventionGenetics, Part of Exact Sciences
United States
12885
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Epilepsy Panel

Invitae
United States
466297
  • 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

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

Single gene testing SETBP1

CeGaT GmbH
Germany
21
  • C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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.