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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Craniosynostosis panel. NGS panel of 37 genes. Genologica Medica Spain | 113 | 37 |
|
Congenital adrenal hyperplasia panel. 9-gene NGS panel. Genologica Medica Spain | 14 | 9 |
|
Panel of premature ovarian failure. NGS panel of 15 genes. Genologica Medica Spain | 50 | 15 |
|
Genital Abnormalities / Sex Development Disorders Panel Genologica Medica Spain | 95 | 49 |
|
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
|
Antley-Bixler syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 2 | 2 |
|
Custom XomeDx Slice – Differences of Sex Development (Proband Only) GeneDx United States | 21 | 112 |
|
Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 20 | 20 |
|
Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 48 | 48 |
|
Laboratorio de Genetica Clinica SL Spain | 2 | 2 |
|
Invitae Antley-Bixler syndrome Test Labcorp Genetics (formerly Invitae) LabCorp United States | 4 | 1 |
|
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis Bioarray Spain | 1 | 1 |
|
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 48 | 47 |
|
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 48 | 47 |
|
Institute of Human Genetics Medical University Innsbruck Austria | 2 | 1 |
|
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