Clinical and research tests for C0010273 - Genetic Testing Registry (GTR)

Page 3 of 4

Results: 41 to 60 of 62

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Craniosynostosis Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	26	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Crouzon syndrome Labor Dr. Wisplinghoff Germany	1	1	C Sequence analysis of the entire coding region
Facial Dysostosis and Related Disorders Panel Blueprint Genetics Finland	1	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PreSeek Non-invasive Prenatal Gene Sequencing Screen Baylor Genetics United States	49	30	C Sequence analysis of the entire coding region
FGFR2-Related disorders: FGFR2 Targeted Analysis Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	5	1	E Sequence analysis of select exons
Craniosynostosis Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	16	23	C Sequence analysis of the entire coding region
Invitae Craniosynostosis Panel Invitae United States	14	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FGFR2 - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	5	1	C Sequence analysis of the entire coding region T Targeted variant analysis
TWIST - Gene Sequencing & Del/Dup analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	3	1	D Deletion/duplication analysis E Sequence analysis of select exons T Targeted variant analysis
FGFR3 - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	9	1	E Sequence analysis of select exons T Targeted variant analysis
Crouzon disease Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Single gene testing FGFR2 CeGaT GmbH Germany	11	1	C Sequence analysis of the entire coding region
FGFR2 Institute of Human Genetics Medical University Innsbruck Austria	2	1	S Mutation scanning of the entire coding region
FGFR2 Single Gene Fulgent Genetics United States	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Dysplasias NGS Panel Fulgent Genetics United States	543	178	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FGFR-Related Craniosynostosis NGS Panel Fulgent Genetics United States	25	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Dysplasia Asper Biogene Asper Biogene LLC Estonia	166	74	C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability NGS Panel Fulgent Genetics United States	1058	554	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Crouzon syndrome MedGene Slovakia	1	1	C Sequence analysis of the entire coding region

<< First < Prev

Page 3 of 4

Next >Last >>

Results: 41 to 60 of 62

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.

Filters

Test type

Test purpose

Test method

Molecular Genetics

Test service

Laboratory certification

Specimen type

Laboratory location

Other countries

Results: 41 to 60 of 62

Results: 41 to 60 of 62