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Results: 1 to 20 of 105

Tests names and labsConditionsGenes and analytesMethods

New Born testing (CentoICU)

Centogene AG - the Rare Disease Company
Germany
767514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

Hirschsprung disease

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

Microcephaly Panel

Genetic Services Laboratory University of Chicago
United States
7278
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qChip 1M

Quantitative Genomic Medicine Laboratories, SL
Spain
183162
  • D Deletion/duplication analysis

qChip 60k post-natal

Quantitative Genomic Medicine Laboratories, SL
Spain
183162
  • D Deletion/duplication analysis

qChip 400

Quantitative Genomic Medicine Laboratories, SL
Spain
183162
  • D Deletion/duplication analysis

High-Resolution Rapid Microarray (CGH and SNP)

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

Rapid microarray (CGH and SNP)

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

qChip 60k prenatal

Quantitative Genomic Medicine Laboratories, SL
Spain
183162
  • D Deletion/duplication analysis

Mowat-wilson syndrome testing (ZEB2)

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

Mowat-Wilson syndrome, 235730, Autosomal dominant; MOWS (Mowat-Wilson syndrome) (ZEB2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Mowat-Wilson syndrome, 235730, Autosomal dominant; MOWS (Mowat-Wilson syndrome) (ZEB2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Top 99 Genetic Causes of Developmental Delay Panel

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

qChip 180

Quantitative Genomic Medicine Laboratories, SL
Spain
183162
  • D Deletion/duplication analysis

EpiRapid reflex EpilepsyNext (parental co-seg)

Ambry Genetics
United States
168100
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurodevelopment-Expanded (parental co-seg)

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

AutismNext (parental co-seg)

Ambry Genetics
United States
8048
  • -- Deletion/duplication analysis
  • -- Sequence analysis of the entire coding region

IDNext (parental co-seg)

Ambry Genetics
United States
222140
  • -- Deletion/duplication analysis
  • -- Sequence analysis of the entire coding region

EpilepsyNext (parental co-seg)

Ambry Genetics
United States
168100
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 105

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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