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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Schizencephaly, 269160 (Schizencephaly) (EMX2 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Schizencephaly, 269160 (Schizencephaly) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Schizencephaly, 269160 (Schizencephaly) (EMX2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Schizencephaly, 269160 (Schizencephaly) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Schizencephaly, 269160 (Schizencephaly) (SIX3 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Schizencephaly, 269160 (Schizencephaly) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Schizencephaly, 269160 (Schizencephaly) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 527 | 338 |
|
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Invitae United States | 130 | 81 |
|
Amplexa Genetics Amplexa Genetics A/S Denmark | 1 | 1 |
|
Baylor Genetics United States | 842 | 637 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 4 | 1 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 1 |
|
Holoprosencephaly panel. 12-gene NGS panel. Genologica Medica Spain | 27 | 12 |
|
Neuronal migration disorder panel. NGS panel of 58 genes. Genologica Medica Spain | 110 | 57 |
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Fulgent Genetics United States | 354 | 209 |
|
Fulgent Genetics United States | 509 | 275 |
|
Fulgent Genetics United States | 127 | 23 |
|
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States | 1048 | 472 |
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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.