Test catalogue

Genetic tests available for sample collection at our units. Search by test name or gene, and filter by specialty.

This list is indicative: the availability and turnaround time of each test should be confirmed with the unit before collection. Results should always be interpreted by your doctor.

Results

774 tests · Page 9 of 26

• Desbuquois syndrome (XYLT1 gene, NGS)

  Code 10623 · Next-generation sequencing (NGS)

  Genes: XYLT1

  Turnaround time: 33 working days

• Desminopathy (DES gene, NGS)

  Code 10626 · Next-generation sequencing (NGS)

  Genes: DES

  Turnaround time: 33 working days

• DICER1 syndrome (pleuropulmonary blastoma) (DICER1 gene, NGS)

  Code 10060 · Next-generation sequencing (NGS)

  Genes: DICER1

  Turnaround time: 33 working days

• Diffuse leukoencephalopathy with spheroids (CSF1R gene, NGS)

  Code 11086 · Next-generation sequencing (NGS)

  Genes: CSF1R

  Turnaround time: 33 working days

• Dihydropyrimidine dehydrogenase deficiency (DPYD gene, NGS)

  Code 10548 · Next-generation sequencing (NGS)

  Genes: DPYD

  Turnaround time: 33 working days

• Distal arthrogryposis type 2A (MYH3 gene, NGS)

  Code 10291 · Next-generation sequencing (NGS)

  Genes: MYH3

  Turnaround time: 33 working days

• Distal arthrogryposis type 2B (MYH3 gene, NGS)

  Code 10293 · Next-generation sequencing (NGS)

  Genes: MYH3

  Turnaround time: 33 working days

• Distal arthrogryposis type 2B (TPM2 gene, NGS)

  Code 10292 · Next-generation sequencing (NGS)

  Genes: TPM2

  Turnaround time: 33 working days

• Distal arthrogryposis type 7 (MYH8 gene, NGS)

  Code 10294 · Next-generation sequencing (NGS)

  Genes: MYH8

  Turnaround time: 33 working days

• Distal hereditary motor neuropathy type 5 (GARS gene, NGS)

  Code 11170 · Next-generation sequencing (NGS)

  Genes: GARS

  Turnaround time: 33 working days

• DNA extraction

  Code 3289 · Extraction

  Genes: Extração de DNA

  Turnaround time: 3 working days

• Donnai-Barrow syndrome (6-gene panel, NGS)

  Code 10799 · Next-generation sequencing (NGS)

  Genes: CLCN5, EFNB1, GPSM2, KIF7, LRP2, OCRL

  Turnaround time: 33 working days

• Dopa-responsive dystonia, autosomal recessive (Segawa syndrome) (TH gene, NGS)

  Code 10737 · Next-generation sequencing (NGS)

  Genes: TH

  Turnaround time: 33 working days

• Dopa-responsive dystonia due to sepiapterin reductase deficiency (SPR gene, NGS)

  Code 10733 · Next-generation sequencing (NGS)

  Genes: SPR

  Turnaround time: 33 working days

• Dopa-responsive dystonia with or without hyperphenylalaninemia (GCH1 gene, NGS)

  Code 10743 · Next-generation sequencing (NGS)

  Genes: GCH1

  Turnaround time: 33 working days

• Dravet syndrome (severe myoclonic epilepsy of infancy) (SCN1A gene, NGS)

  Code 10800 · Next-generation sequencing (NGS)

  Genes: SCN1A

  Turnaround time: 33 working days

• Duchenne/Becker muscular dystrophy (DMD gene, NGS)

  Code 10783 · Next-generation sequencing (NGS)

  Genes: DMD

  Turnaround time: 33 working days

• Duchenne/Becker muscular dystrophy (full sequencing of the DMD gene)

  Code 3111 · Sequencing

  Genes: DMD

  Turnaround time: 123 working days

• Dystonias (32-gene panel, NGS)

  Code 10028 · Next-generation sequencing (NGS)

  Genes: ANO3, ATP1A3, CACNA1B, CIZ1, COL6A3, DRD2, DRD5, GCH1 and 24 more

  Turnaround time: 33 working days

• Dystonia type 12 (ATP1A3 gene, NGS)

  Code 10741 · Next-generation sequencing (NGS)

  Genes: ATP1A3

  Turnaround time: 33 working days

• Dystonia type 16 (PRKRA gene, NGS)

  Code 10742 · Next-generation sequencing (NGS)

  Genes: PRKRA

  Turnaround time: 33 working days

• Dystonia type 6 (THAP1 gene, NGS)

  Code 10744 · Next-generation sequencing (NGS)

  Genes: THAP1

  Turnaround time: 33 working days

• Dystonia type 9 (SLC2A1 gene, NGS)

  Code 10745 · Next-generation sequencing (NGS)

  Genes: SLC2A1

  Turnaround time: 33 working days

• Dystroglycanopathies (16-gene panel, NGS)

  Code 10172 · Next-generation sequencing (NGS)

  Genes: B3GALNT2, B3GNT2, DAG1, DPM1, DPM2, DPM3, FKRP, FKTN and 8 more

  Turnaround time: 33 working days

• Early infantile epileptic encephalopathy 9 (Dravet-like, EIEE) (PCDH19 gene, NGS)

  Code 10842 · Next-generation sequencing (NGS)

  Genes: PCDH19

  Turnaround time: 33 working days

• Early infantile epileptic encephalopathy (SCN8A gene, NGS)

  Code 10840 · Next-generation sequencing (NGS)

  Genes: SCN8A

  Turnaround time: 33 working days

• Early infantile epileptic encephalopathy (STXBP1 gene, NGS)

  Code 10841 · Next-generation sequencing (NGS)

  Genes: STXBP1

  Turnaround time: 33 working days

• Early infantile epileptic encephalopathy (TBC1D24 gene, NGS)

  Code 10839 · Next-generation sequencing (NGS)

  Genes: TBC1D24

  Turnaround time: 33 working days

• Early-onset epileptic encephalopathy type 27 (GRIN2B gene, NGS)

  Code 10074 · Next-generation sequencing (NGS)

  Genes: GRIN2B

  Turnaround time: 33 working days

• Early-onset infantile epileptic encephalopathy (CDKL5 gene, NGS)

  Code 10826 · Next-generation sequencing (NGS)

  Genes: CDKL5

  Turnaround time: 33 working days