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Results: 1 to 20 of 59

Tests names and labsConditionsGenes, analytes, and microbesMethods

qChip 1M

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 60k post-natal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 400

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 60k prenatal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

Invitae Multi-Cancer + RNA Panel

Invitae
United States
14363
  • D Deletion/duplication analysis

VACTERL Association and Related Disorders Panel

PreventionGenetics, Part of Exact Sciences
United States
12384
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Overgrowth Syndromes Panel

Invitae
United States
9653
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Brain Malformations Panel

Invitae
United States
247161
  • D Deletion/duplication analysis

Hydrocephalus Panel

PreventionGenetics, Part of Exact Sciences
United States
4037
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Holoprosencephaly 7, 610828, Autosomal dominant; HPE7 (Holoprosencephaly) (PTCH1 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

Holoprosencephaly 7, 610828, Autosomal dominant; HPE7 (Holoprosencephaly) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Holoprosencephaly 7, 610828, Autosomal dominant; HPE7 (Holoprosencephaly) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Holoprosencephaly 7, 610828, Autosomal dominant; HPE7 (Holoprosencephaly) (PTCH1 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

Medulloblastoma Panel

PreventionGenetics, Part of Exact Sciences
United States
219
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qChip 180

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Invitae Genetic Health Screen

Invitae
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cancer Screen

Invitae
United States
16062
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Variant Resolution Test for CustomNext-Cancer® (+RNAinsight®)

Ambry Genetics
United States
14718
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Variant Resolution Test for BrainTumorNext® (+RNAinsight®)

Ambry Genetics
United States
728
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 59

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.