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Results: 1 to 20 of 99

Tests names and labsConditionsGenes, analytes, and microbesMethods

VIPAS39 Gene Arthrogryposis, renal dysfunction, and cholestasis type 2 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Comprehensive Nephrology Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1299
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PlateletGenex Functional Defect Panel (31 genes) (2 Day STAT TAT)

Machaon Diagnostics
United States
2631
  • C Sequence analysis of the entire coding region

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

VIPAS39 - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Blood Coagulation Panel

Centogene AG - the Rare Disease Company
Germany
110112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel

Invitae
United States
6741
  • D Deletion/duplication analysis

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel

Invitae
United States
7050
  • D Deletion/duplication analysis

Invitae Cholestasis Panel

Invitae
United States
210134
  • D Deletion/duplication analysis

Cholestasis Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
8112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholestasis Panel

PreventionGenetics, part of Exact Sciences
United States
13069
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital contracture syndrome extended Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1031
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel

HNL Genomics Connective Tissue Gene Tests
United States
1322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital contracture syndrome extended NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1031
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 99

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.