GTR Home > Tests > Search results - Kabuki make-up syndrome

Apply filters

Showing test for 1 condition

reset

Compare labs

Your search term can be found in tests with a total of 2068 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

GTR test search results for C0796004[DISCUI]

C Clinical test, R Research test

Showing 1 to 20 of 33 tests for 1 condition in 22 labs

CKDM6A deletion/duplication analysis

Lab: Genetic Services Laboratory University of Chicago Chicago, Illinois, United States
Test targets
Methods
  • D Deletion/duplication analysis

CMLL2 sequencing

Lab: Genetic Services Laboratory University of Chicago Chicago, Illinois, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region

CMLL2 deletion/duplication analysis

Lab: Genetic Services Laboratory University of Chicago Chicago, Illinois, United States
Test targets
Methods
  • D Deletion/duplication analysis

CKDM6A sequencing

Lab: Genetic Services Laboratory University of Chicago Chicago, Illinois, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region

CKabuki syndrome type 1

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

CKabuki Syndrome Nextgen Sequencing (NGS) Panel

Lab: PreventionGenetics Marshfield, Wisconsin, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CTruGenome Predisposition Screen (Whole Genome Sequencing)

Lab: Illumina Clinical Services Laboratory Illumina San Diego, California, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (1541)
Total targets (1578)

CComprehensive Epilepsy Panel

Lab: Transgenomic New Haven, Connecticut, United States
Total conditions (527)
Total targets (377)

CepiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders (489 genes)

Lab: Courtagen Diagnostics Laboratory Courtagen Life Sciences Woburn, Massachusetts, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (641)
Total targets (439)

CKabuki syndrome: MLL2 gene sequence analysis

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

CKMT2D

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

CKDM6A

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

CKMT2D

Lab: Laboratoire des maladies rares et Auto-Inflammatoires CHRU Montpellier Montpellier, Languedoc-Roussillon, France
Test targets
Methods
  • S Mutation scanning of the entire coding region

CMLL2. Complete sequencing

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

CMLL2. NextGeneDx.Complete sequencing by NGS

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

CKDM6A. Complete sequencing

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

CMLL2. MLPA testing

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

CEpilepsy Advanced Sequencing Evaluation - Syndromic Disorders

Lab: Athena Diagnostics Inc Marlborough, Massachusetts, United States
Methods
  • C Sequence analysis of the entire coding region
Total conditions (26)
Total targets (26)

CEpilepsy Advanced Sequencing Evaluation

Lab: Athena Diagnostics Inc Marlborough, Massachusetts, United States
Total conditions (143)
Total targets (141)

CProportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel

Lab: Emory Genetics Laboratory Emory University Decatur, Georgia, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (77)
Total targets (45)

Showing 1 to 20 of 33 tests for 1 condition in 22 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.