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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Invitae Expanded Renal Disease Panel Invitae United States | 693 | 388 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
XPNPEP3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 406 | 414 |
|
Centogene AG - the Rare Disease Company Germany | 498 | 498 |
|
Centogene AG - the Rare Disease Company Germany | 499 | 499 |
|
Invitae Nephronophthisis Panel Invitae United States | 54 | 27 |
|
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States | 394 | 319 |
|
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States | 292 | 253 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae Progressive Renal Disease Panel Invitae United States | 310 | 195 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 527 | 338 |
|
Nephronophthisis and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 29 | 29 |
|
Nephronophthisis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 29 | 29 |
|
Nephronophthisis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 29 | 29 |
|
Baylor Genetics United States | 842 | 637 |
|
Nephronophthisis-Like Nephropathy-1 (NPHPL1) via the XPNPEP3 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Nephronophthisis-like nephropathy 1 (sequence analysis of XPNPEP3 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
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.