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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Invitae Expanded Renal Disease Panel Invitae United States | 692 | 388 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
OFD1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
|
Invitae Nephronophthisis Panel Invitae United States | 54 | 27 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 755 | 562 |
|
Invitae Overgrowth Syndromes Panel Invitae United States | 96 | 53 |
|
Invitae Neonatal Respiratory Distress Panel Invitae United States | 163 | 111 |
|
Invitae Limb and Digital Malformations Panel Invitae United States | 356 | 177 |
|
Invitae Cystic Kidney Disease Panel Invitae United States | 96 | 44 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae Inherited Retinal Disorders Panel Invitae United States | 486 | 293 |
|
Invitae Progressive Renal Disease Panel Invitae United States | 310 | 195 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 527 | 338 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 163 | 128 |
|
Molecular Vision Laboratory United States | 342 | 268 |
|
X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States | 191 | 141 |
|
PreventionGenetics, part of Exact Sciences United States | 91 | 82 |
|
Invitae Primary Ciliary Dyskinesia Panel Invitae United States | 49 | 37 |
|
X-linked Retinitis Pigmentosa (XLRP) and Choroideremia Panel PreventionGenetics, part of Exact Sciences United States | 7 | 4 |
|
Periventricular heterotopia panel Genologica Medica Spain | 52 | 20 |
|
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.