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Results: 1 to 20 of 56

Tests names and labsConditionsGenes and analytesMethods

Microcephaly Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
7279
  • D Deletion/duplication analysis

Microcephaly Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
6470
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Renpenning syndrome

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

Autism Spectrum Disorders Sequencing Panel with CNV Detection

PreventionGenetics
United States
102108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection

PreventionGenetics
United States
90110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Renpenning Syndrome via the PQBP1 Gene

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

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

X-Linked Intellectual Disability Sequencing Panel with CNV Detection

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

X-chromosome High Resolution microarray analysis

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

PQBP1 gene sequence and deletion/duplication

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

Neurodevelopment-Expanded

Ambry Genetics
United States
308196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

IDNext

Ambry Genetics
United States
221140
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext: Neuro

Ambry Genetics
United States
308196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-Linked Nonsyndromic Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes

Reference Laboratory Genetics
Spain
3231
  • C Sequence analysis of the entire coding region

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes

Reference Laboratory Genetics
Spain
8677
  • 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

Hereditary Spastic Paraplegia Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8079
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability

Athena Diagnostics Inc
United States
5756
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation

Athena Diagnostics Inc
United States
234234
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 56

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.

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