GTR Home > Tests > Search results - 118450[mim]

Apply filters

Showing tests for all 1331 conditions

Compare labs

Your search term can be found in tests with a total of 1331 conditions. Only 1000 conditions are displayed in this filter box. Please type the name of the condition in the search box in this filter to find the specific condition. You can use the filters below to narrow down your results.
If the name of the condition you typed is not present, please try another query or search using the All GTR tab.

  • Hide states
More locations

GTR test search results for 118450[mim]

C Clinical test, R Research test

Showing 1 to 20 of 32 tests for 1331 conditions in 19 labs

CAlagille syndrome type 1

Lab: Centogene AG - the Rare Disease Company Centogene AG Rostock, Mecklenburg-Vorpommern, Germany
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CJAG1 Gene Sequencing

Test targets
Methods
  • C Sequence analysis of the entire coding region

CCongenital Heart Disease Panel A (GATA4/NKX2-5/JAG1)

Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (10)

CAlagille Syndrome-1 via the JAG1 Gene

Lab: PreventionGenetics Marshfield, Wisconsin, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CAlagille Syndrome

Lab: Ambry Genetics Aliso Viejo, California, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CCholestasis NGS Panel

Lab: Fulgent Clinical Diagnostics Lab Fulgent Diagnostics Temple City, California, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (14)
Total targets (7)

CJAG1. MLPA testing

Lab: Instituto de Medicina Genomica Paterna, Comunidad Valenciana, Spain
Test targets
Methods
  • D Deletion/duplication analysis

CJAG1. Sequencing of the exons 1-6, 9, 12, 17, 20, 23 and 24

Lab: Instituto de Medicina Genomica Paterna, Comunidad Valenciana, Spain
Test targets
Methods
  • E Sequence analysis of select exons

CJAG1. Complete sequencing

Lab: Instituto de Medicina Genomica Paterna, Comunidad Valenciana, Spain
Test targets
Methods
  • C Sequence analysis of the entire coding region

CNeonatal and Adult Cholestasis: Sequencing Panel

Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (100)
Total targets (58)

CHearing Loss NGS Panel

Lab: Fulgent Clinical Diagnostics Lab Fulgent Diagnostics Temple City, California, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (202)
Total targets (103)

CCongenital heart defects panel

Test targets
Methods
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
Total conditions (70)
Total targets (34)

CAlagille syndrome 1

Lab: MedGene Bratislava, Bratislava, Slovakia
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CPan-Cardiovascular NGS Panel

Lab: Fulgent Clinical Diagnostics Lab Fulgent Diagnostics Temple City, California, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (239)
Total targets (100)

CEye Disorders NGS Panel

Lab: Fulgent Clinical Diagnostics Lab Fulgent Diagnostics Temple City, California, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (252)
Total targets (138)

CAlagille Syndrome (sequence analysis of JAG1 gene)

Lab: CGC Genetics Porto, Porto, Portugal
Test targets
Methods
  • C Sequence analysis of the entire coding region

CAlagille Syndrome (deletion/duplication analysis of JAG1 gene)

Lab: CGC Genetics Porto, Porto, Portugal
Test targets
Methods
  • D Deletion/duplication analysis

CAlagille syndrome 1

Lab: Praxis fuer Humangenetik Wien Vienna, Wien, Austria
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Showing 1 to 20 of 32 tests for 1331 conditions in 19 labs

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.

Write to the Help Desk