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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Seckel syndrome 1, 210600, Autosomal recessive; SCKL1 (Seckel syndrome) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey | 1 | 1 |
|
Aventus Biolabs United States | 66 | 133 |
|
IGENOMIX Spain | 1 | 1 |
|
Limb malformation panel. NGS panel of 45 genes. Genologica Medica Spain | 77 | 45 |
|
Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain | 194 | 122 |
|
Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel. Genologica Medica Spain | 63 | 48 |
|
Genologica Medica Spain | 35 | 22 |
|
Seckel syndrome panel. 6-gene NGS panel. Genologica Medica Spain | 10 | 6 |
|
3M syndrome / primordial dwarfism panel. NGS panel of 24 genes. Genologica Medica Spain | 33 | 24 |
|
ATR Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 2 | 1 |
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
|
Clefting (WES based NGS panel of 231 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal | 410 | 231 |
|
Craniosynostosis (WES based NGS panel of 69 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal | 163 | 69 |
|
Seckel syndrome (NGS panel of 11 genes) Unilabs Genetics CGC Genetics Portugal | 15 | 11 |
|
Seckel syndrome 1 (sequence analysis of ATR gene) Unilabs Genetics CGC Genetics Portugal | 2 | 1 |
|
Genetic syndromes with skeletal involvement (NGS panel of 38 genes) Unilabs Genetics CGC Genetics Portugal | 72 | 38 |
|
CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 67 | 48 |
|
Seckel syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 9 | 9 |
|
Primordial Dwarfism and Related Disorders , Panel Massive Sequencing (NGS) 12 Genes Reference Laboratory Genetics Spain | 12 | 12 |
|
Seckel Syndrome, Panel Massive Sequencing (NGS) 5 Genes Reference Laboratory Genetics Spain | 5 | 5 |
|
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