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 25 of 26

• Spinocerebellar ataxia SCA2 (ATXN2 gene)

  Code 3105 · PCR

  Genes: ATXN2

  Turnaround time: 33 working days

• 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

• Spondyloepiphyseal dysplasia tarda (TRAPPC2 gene, NGS)

  Code 10686 · Next-generation sequencing (NGS)

  Genes: TRAPPC2

  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

• Stroke and hemiplegia (14-gene panel, NGS)

  Code 10146 · Next-generation sequencing (NGS)

  Genes: ACTA2, ATP1A2, ATP1A3, COL4A1, COL4A2, GLA, HTRA1, ITM2B and 6 more

  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

• Tay-Sachs disease (HEXA gene, NGS)

  Code 10091 · Next-generation sequencing (NGS)

  Genes: HEXA

  Turnaround time: 33 working days

• Tay-Sachs disease (HEXA gene, sequencing)

  Code 3239 · Sanger sequencing

  Genes: HEXA

  Turnaround time: 33 working days

• Torsion dystonia (TOR1A gene, NGS)

  Code 10735 · Next-generation sequencing (NGS)

  Genes: TOR1A

  Turnaround time: 33 working days

• Transthyretin mutation (TTR gene, Met 30)

  Code 3036 · Sequencing

  Genes: TTR

  Turnaround time: 63 working days

• Trio exome (NGS)

  Code 3290 · Next-generation sequencing (NGS)

  Genes: Exoma Trio (NGS)

  Turnaround time: 33 working days

• TTN gene testing (NGS)

  Code 3344 · Next-generation sequencing (NGS)

  Genes: TTN

  Turnaround time: 33 working days

• Tuberous sclerosis complex (2-gene panel, NGS)

  Code 10907 · Next-generation sequencing (NGS)

  Genes: TSC1, TSC2

  Turnaround time: 33 working days

• Tuberous sclerosis complex - NGS sequencing (TSC1 and TSC2)

  Code 3165 · Next-generation sequencing (NGS)

  Genes: TSC1, TSC2

  Turnaround time: 63 working days

• Tuberous sclerosis complex (TSC1 gene, NGS)

  Code 10906 · Next-generation sequencing (NGS)

  Genes: TSC1

  Turnaround time: 33 working days

• Tuberous sclerosis complex (TSC2 gene, NGS)

  Code 10905 · Next-generation sequencing (NGS)

  Genes: TSC2

  Turnaround time: 33 working days

• Tyrosinemia (3-gene panel, NGS)

  Code 10181 · Next-generation sequencing (NGS)

  Genes: FAH, HPD, RHBDF2

  Turnaround time: 33 working days

• Ullrich congenital muscular dystrophy (COL6A1 gene, NGS)

  Code 10760 · Next-generation sequencing (NGS)

  Genes: COL6A1

  Turnaround time: 33 working days