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Results: 21 to 40 of 146

Tests names and labsConditionsGenes, analytes, and microbesMethods

SMAD4 - MLPA

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis

SMAD4 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Connective Tissue Disorders Panel

Invitae
United States
19592
  • D Deletion/duplication analysis

Invitae Multi-Cancer + RNA Panel

Invitae
United States
14363
  • D Deletion/duplication analysis

Invitae Common Hereditary Cancers + RNA Panel

Invitae
United States
11447
  • D Deletion/duplication analysis

Gastric Cancer Panel

PreventionGenetics, part of Exact Sciences
United States
3619
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CancerNext® 37

Ambry Genetics
United States
7937
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Variant Resolution Test for CancerNext® 37 (+RNAinsight®)

Ambry Genetics
United States
7918
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, part of Exact Sciences
United States
346160
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Variant Resolution Test for Penn Cancer Grant Panel (+RNAinsight®)

Ambry Genetics
United States
7918
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Penn Cancer Grant Panel

Ambry Genetics
United States
7980
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Invitae Limb and Digital Malformations Panel

Invitae
United States
356177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050, Autosomal dominant; JPHT (Juvenile polyposis syndrome) (MLPA)

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

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050, Autosomal dominant; JPHT (Juvenile polyposis syndrome) (SMAD4 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

Variant Resolution Test for CancerNext® (+RNAinsight®)

Ambry Genetics
United States
5534
  • D Deletion/duplication analysis
  • R RNA 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 ColoNext® (+RNAinsight®)

Ambry Genetics
United States
4810
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Variant Resolution Test for CancerNext-Expanded® (+RNAinsight®)

Ambry Genetics
United States
9571
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 146

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.