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

911 tests · Page 29 of 31

• Spinocerebellar ataxia SCA6 (CACNA1A gene)

  Code 3119 · PCR

  Genes: CACNA1A

  Turnaround time: 33 working days

• Spinocerebellar ataxia SCA7 (ATXN7 gene)

  Code 3235 · PCR / Fragment analysis

  Genes: ATXN7

  Turnaround time: 33 working days

• Spinocerebellar ataxia (SCA 8-gene panel)

  Code 3233 · PCR / Fragment analysis

  Genes: ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, PPP2R2B, TBP

  Turnaround time: 33 working days

• Spinocerebellar ataxia (SCA) type 11 (TTBK2 gene, NGS)

  Code 10309 · Next-generation sequencing (NGS)

  Genes: TTBK2

  Turnaround time: 33 working days

• Spinocerebellar ataxia (SCA) type 13 (KCNC3 gene, NGS)

  Code 10310 · Next-generation sequencing (NGS)

  Genes: KCNC3

  Turnaround time: 33 working days

• Spinocerebellar ataxia (SCA) type 14 (PRKCG gene, NGS)

  Code 10311 · Next-generation sequencing (NGS)

  Genes: PRKCG

  Turnaround time: 33 working days

• Spinocerebellar ataxia (SCA) type 18 (GRID2 gene, NGS)

  Code 10313 · Next-generation sequencing (NGS)

  Genes: GRID2

  Turnaround time: 33 working days

• Spinocerebellar ataxia (SCA) type 18 (IFRD1 gene, NGS)

  Code 10312 · Next-generation sequencing (NGS)

  Genes: IFRD1

  Turnaround time: 33 working days

• Spinocerebellar ataxia (SCA) type 19 (KCND3 gene, NGS)

  Code 10314 · Next-generation sequencing (NGS)

  Genes: KCND3

  Turnaround time: 33 working days

• Spinocerebellar ataxia (SCA) type 27 (FGF14 gene, NGS)

  Code 10315 · Next-generation sequencing (NGS)

  Genes: FGF14

  Turnaround time: 33 working days

• Spinocerebellar ataxia (SCA) type 5 (SPTBN2 gene, NGS)

  Code 10316 · Next-generation sequencing (NGS)

  Genes: SPTBN2

  Turnaround time: 33 working days

• Spinocerebellar ataxia (TGM6 gene, NGS)

  Code 10040 · Next-generation sequencing (NGS)

  Genes: TGM6

  Turnaround time: 33 working days

• Spinocerebellar ataxia type 28 (AFG3L2 gene, NGS)

  Code 10317 · Next-generation sequencing (NGS)

  Genes: AFG3L2

  Turnaround time: 33 working days

• Split-hand/foot malformation 1 with sensorineural hearing loss (DLX5 gene, NGS)

  Code 10061 · Next-generation sequencing (NGS)

  Genes: DLX5

  Turnaround time: 33 working days

• Spondyloepiphyseal dysplasia congenita (COL2A1 gene, NGS)

  Code 10684 · Next-generation sequencing (NGS)

  Genes: COL2A1

  Turnaround time: 33 working days

• Spondyloepiphyseal dysplasia, Kimberley type / Spondylometaphyseal dysplasia, aggrecan type / Familial osteochondritis dissecans (ACAN gene, NGS)

  Code 10688 · Next-generation sequencing (NGS)

  Genes: ACAN

  Turnaround time: 33 working days

• Spondyloepiphyseal dysplasia tarda (TRAPPC2 gene, NGS)

  Code 10686 · Next-generation sequencing (NGS)

  Genes: TRAPPC2

  Turnaround time: 33 working days

• Spondylometaphyseal dysplasia (27-gene panel, NGS)

  Code 10689 · Next-generation sequencing (NGS)

  Genes: ACAN, ACP5, B3GALT6, BGN, CANT1, CHST3, COL11A1, COL11A2 and 19 more

  Turnaround time: 33 working days

• Spondylometaphyseal dysplasia with combined immunodeficiency (ACP5 gene, NGS)

  Code 10687 · Next-generation sequencing (NGS)

  Genes: ACP5

  Turnaround time: 33 working days

• Stargardt disease type 1 (ABCA4 gene, NGS)

  Code 3339 · Next-generation sequencing (NGS)

  Genes: ABCA4

  Turnaround time: 33 working days

• Stickler syndrome (5-gene panel, NGS)

  Code 10080 · Next-generation sequencing (NGS)

  Genes: COL11A1, COL11A2, COL2A1, COL9A1, COL9A2

  Turnaround time: 33 working days

• Succinic semialdehyde dehydrogenase deficiency (ALDH5A1 gene, NGS)

  Code 10591 · Next-generation sequencing (NGS)

  Genes: ALDH5A1

  Turnaround time: 33 working days

• Succinyl-CoA:acetoacetate transferase deficiency (OXCT1 gene, NGS)

  Code 10592 · Next-generation sequencing (NGS)

  Genes: OXCT1

  Turnaround time: 33 working days

• Sulfite oxidase deficiency due to molybdenum cofactor deficiency (MOCS2 gene, NGS)

  Code 10552 · Next-generation sequencing (NGS)

  Genes: MOCS2

  Turnaround time: 33 working days

• Sulfite oxidase, molybdenum and xanthine deficiency (6-gene panel, NGS)

  Code 10134 · Next-generation sequencing (NGS)

  Genes: GPHN, MOCOS, MOCS1, MOCS2, SUOX, XDH

  Turnaround time: 33 working days

• Tay-Sachs disease (HEXA gene, sequencing)

  Code 3239 · Sanger sequencing

  Genes: HEXA

  Turnaround time: 33 working days

• Testing for large deletions/duplications (MLPA) - CHEK2

  Code 3509 · MLPA

  Genes: CHEK2

  Turnaround time: 15 working days

• Thanatophoric dysplasia types I and II (FGFR3 gene, NGS)

  Code 10697 · Next-generation sequencing (NGS)

  Genes: FGFR3

  Turnaround time: 33 working days

• Thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene, NGS)

  Code 10260 · Next-generation sequencing (NGS)

  Genes: SLC19A2

  Turnaround time: 33 working days

• Thiopurine methyltransferase deficiency (TPMT gene polymorphisms)

  Code 3295 · Sanger sequencing

  Genes: TPMT

  Turnaround time: 33 working days