Clinical and research tests for C4721436 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
EGR2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuropathy, congenital hypomyelinating, 605253, Autosomal recessive, Autosomal dominant; CHN (Charcot-Marie-Tooth disease type 4E) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Neuropathy, congenital hypomyelinating, 1, 605253, Autosomal recessive, Autosomal dominant (Charcot-Marie-Tooth disease type 4E) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Neuropathy, congenital hypomyelinating, 605253, Autosomal recessive, Autosomal dominant; CHN (Charcot-Marie-Tooth disease type 4E) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Neuropathy, congenital hypomyelinating, 1, 605253, Autosomal recessive, Autosomal dominant (Charcot-Marie-Tooth disease type 4E) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Charcot-Marie-Tooth disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	50	43	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	50	43	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Atrial fibrillation Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	22	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Atrial fibrillation Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	22	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neuropathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	201	96	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Charcot-Marie Tooth Disease Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States	123	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Arthrogryposis Panel GeneDx United States	156	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dejerine-Sottas Syndrome NGS Panel Fulgent Genetics United States	14	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Arthrogryposis NGS Panel Fulgent Genetics United States	175	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Paroxysmal Extreme Pain Disorder NGS Panel Fulgent Genetics United States	185	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CMT Advanced Evaluation - Nonprevalent Demyelinating Athena Diagnostics United States	17	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CMT Advanced Evaluation - Nonprevalent Athena Diagnostics United States	25	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EGR2 Single Gene Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MPZ Single Gene Fulgent Genetics United States	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot Marie Tooth Disease Extended NGS Panel Fulgent Genetics United States	172	59	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.