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Results: 1 to 20 of 46

Tests names and labsConditionsGenes and analytesMethods

Cleft lip/palate panel

Centogene AG - the Rare Disease Company
Germany
166
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • C Sequence analysis of the entire coding region

FoundationOne® Heme

Foundation Medicine, Inc.
United States
2405
  • D Deletion/duplication analysis
  • R RNA analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Rapp-Hodgkin syndrome

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

Limb-mammary syndrome

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

Ectodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3

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

Ankyloblepharon-ectodermal defects-cleft lip/palate

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

ADULT syndrome, split hand-foot malformation

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

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • C Sequence analysis of the entire coding region

TP63. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

TP63. Sequencing of the exons 6,7, 8 and 9

Instituto de Medicina Genomica
Spain
11
  • E Sequence analysis of select exons

TP63,EDA,EDAR,EDARADD,WNT10A, NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
75
  • C Sequence analysis of the entire coding region

TP63. Sequencing of the exons 13 and 14

Instituto de Medicina Genomica
Spain
11
  • E Sequence analysis of select exons

TP63. Sequencing of the exon 3

Instituto de Medicina Genomica
Spain
11
  • E Sequence analysis of select exons

TP63. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

TP63 -Related Disorders via the TP63 Gene

PreventionGenetics
United States
61
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypospadias Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
7361
  • C Sequence analysis of the entire coding region

Ectodermal dysplasia

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1612
  • C Sequence analysis of the entire coding region

CHOP Solid Tumors Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1237
  • S Mutation scanning of the entire coding region

TP63 Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
61
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 46

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.