Filters

See more specimen types...
See more states

Other countries

Results: 1 to 20 of 42

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • C Sequence analysis of the entire coding region

OPHN1 sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • H Detection of homozygosity
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance

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

OPHN1 deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis

X-Linked Intellectual Disability NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
8081
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

OPHN1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance via the OPHN1 Gene

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

Mental retardation, X-linked, non-syndromic

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3531
  • C Sequence analysis of the entire coding region

Spinocerebellar Ataxia

Asper Biotech Asper Biotech Ltd.
Estonia
6663
  • C Sequence analysis of the entire coding region

Neurodevelopment-Expanded

Ambry Genetics
United States
105196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Abnormal/Ambiguous Genitalia Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
8272
  • C Sequence analysis of the entire coding region

46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2926
  • C Sequence analysis of the entire coding region

Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Mental retardation, X-linked (NGS panel for 89 genes)

CGC Genetics
Portugal
4989
  • C Sequence analysis of the entire coding region

NGS Epilepsy/Seizure Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
96145
  • C Sequence analysis of the entire coding region

Mental retardation with cerebellar hypoplasia, X-linked (sequence analysis of OPHN1 gene)

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

Single gene testing OPHN1

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

X-linked mental retardation (deletion/duplication analysis, multiple genes)

CGC Genetics
Portugal
1516
  • D Deletion/duplication analysis

Results: 1 to 20 of 42

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.