Neuropediatrics
None
| Product | Type of test | Genes |
|---|---|---|
| Spherocytosis, type 1 | Gene NGS | ANK1 |
| Spherocytosis, type 2 | Gene NGS | SPTB |
| Spherocytosis, type 3 | Gene NGS | SPTA1 |
| Spherocytosis, type 4 | Gene NGS | SLC4A1 |
| Spherocytosis, type 5 | Gene NGS | EPB42 |
| Spinal muscular atrophy with respiratory... | Gene NGS | IGHMBP2 |
| Spinocerebellar ataxia (SCA) type 1 | Detection of expansions | ATXN1 |
| Spinocerebellar ataxia (SCA) type 10 | Detection of expansions | ATXN10 |
| Spinocerebellar ataxia (SCA) type 11 | Gene NGS | TTBK2 |
| Spinocerebellar ataxia (SCA) type 12 | Detection of expansions | PPP2R2B |
| Spinocerebellar ataxia (SCA) type 17 | Detection of expansions | TBP |
| Spinocerebellar ataxia (SCA) type 18 | Gene NGS | IFRD1 |
| Spinocerebellar ataxia (SCA) type 2 | Detection of expansions | ATXN2 |
| Spinocerebellar ataxia (SCA) type 3 | Detection of expansions | ATXN3 |
| Spinocerebellar ataxia (SCA) type 5 | Gene NGS | SPTBN2 |
| Spinocerebellar ataxia (SCA) type 7 | Detection of expansions | ATXN7 |
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- Cytoarray (Ige, serum)
- Cytoarray 400K Autismo
- Cytoarray CGH 60k
- Cytoarray Parental (180k)
- Cytoarray Parental (60k)
- Cytoarray + SNP
- Cytoarray Plus + SNP ( 400k)
- Cytoarray Plus 180k
- Cytoarray Plus 1M
- Cytoarray Plus 400k
- Cytoarray Prenatal
- Cytoarray Prenatal 60K with Karyotype
- Cytoarray Prenatal - without bioinformatic analysis
-
PGS and PGD using NGSPrenatal DiagnosisNGS Carrier Screening PanelRecurrent Miscarriage TestingWhole Exome Sequencing