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

617 tests · Page 1 of 21

• 11-beta-hydroxylase deficiency (CYP11B1 gene, sequencing) [congenital adrenal hyperplasia]

  Code 3254 · Sanger sequencing

  Genes: CYP11B1

  Turnaround time: 28 working days

• 17q21.31 microdeletion syndrome (MAPT gene, NGS)

  Code 11126 · Next-generation sequencing (NGS)

  Genes: MAPT

  Turnaround time: 33 working days

• 21-hydroxylase deficiency (CYP21A2 gene)

  Code 3174 · Sequencing and MLPA

  Genes: CYP21A2

  Turnaround time: 24 working days

• 21-hydroxylase deficiency (CYP21A2 gene, MLPA)

  Code 3354 · MLPA

  Genes: CYP21A2

  Turnaround time: 33 working days

• 3-M syndrome (COLEC11 gene, NGS)

  Code 10004 · Next-generation sequencing (NGS)

  Genes: COLEC11

  Turnaround time: 33 working days

• 3-M syndrome (CUL7 gene, NGS)

  Code 10003 · Next-generation sequencing (NGS)

  Genes: CUL7

  Turnaround time: 33 working days

• 3-M syndrome (MASP1 gene, NGS)

  Code 10005 · Next-generation sequencing (NGS)

  Genes: MASP1

  Turnaround time: 33 working days

• 3-M syndrome (OBSL1 gene, NGS)

  Code 10002 · Next-generation sequencing (NGS)

  Genes: OBSL1

  Turnaround time: 33 working days

• Aarskog syndrome (FGD1 gene, NGS)

  Code 10095 · Next-generation sequencing (NGS)

  Genes: FGD1

  Turnaround time: 33 working days

• Aceruloplasminemia (CP gene, NGS)

  Code 10097 · Next-generation sequencing (NGS)

  Genes: CP

  Turnaround time: 33 working days

• Acquired partial lipodystrophy (Barraquer-Simons syndrome) (LMNB2 gene, NGS)

  Code 11094 · Next-generation sequencing (NGS)

  Genes: LMNB2

  Turnaround time: 33 working days

• Acral peeling skin syndrome (TGM5 gene, NGS)

  Code 10624 · Next-generation sequencing (NGS)

  Genes: TGM5

  Turnaround time: 33 working days

• Adams-Oliver syndrome (8-gene panel, NGS)

  Code 10160 · Next-generation sequencing (NGS)

  Genes: ARHGAP31, DLL4, DOCK6, EOGT, KCTD1, NOTCH1, RBPJ, UBR1

  Turnaround time: 33 working days

• Adams-Oliver syndrome (ARHGAP31 gene, NGS)

  Code 10155 · Next-generation sequencing (NGS)

  Genes: ARHGAP31

  Turnaround time: 33 working days

• Adams-Oliver syndrome (DOCK6 gene, NGS)

  Code 10156 · Next-generation sequencing (NGS)

  Genes: DOCK6

  Turnaround time: 33 working days

• Adams-Oliver syndrome (RBPJ gene, NGS)

  Code 10157 · Next-generation sequencing (NGS)

  Genes: RBPJ

  Turnaround time: 33 working days

• Aicardi-Goutières syndrome (7-gene panel, NGS)

  Code 10188 · Next-generation sequencing (NGS)

  Genes: ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1

  Turnaround time: 33 working days

• Aicardi-Goutières syndrome (RNASEH2A gene, NGS)

  Code 10201 · Next-generation sequencing (NGS)

  Genes: RNASEH2A

  Turnaround time: 33 working days

• Aicardi-Goutières syndrome (RNASEH2B gene, NGS)

  Code 10200 · Next-generation sequencing (NGS)

  Genes: RNASEH2B

  Turnaround time: 33 working days

• Aicardi-Goutières syndrome (RNASEH2C gene, NGS)

  Code 10202 · Next-generation sequencing (NGS)

  Genes: RNASEH2C

  Turnaround time: 33 working days

• Aicardi-Goutières syndrome (SAMHD1 gene, NGS)

  Code 10203 · Next-generation sequencing (NGS)

  Genes: SAMHD1

  Turnaround time: 33 working days

• Aicardi-Goutières syndrome (TREX1 gene, NGS)

  Code 10199 · Next-generation sequencing (NGS)

  Genes: TREX1

  Turnaround time: 33 working days

• Alagille syndrome type 1 (JAG1 gene, NGS)

  Code 10190 · Next-generation sequencing (NGS)

  Genes: JAG1

  Turnaround time: 33 working days

• Alagille syndrome type 2 (NOTCH2 gene, NGS)

  Code 10191 · Next-generation sequencing (NGS)

  Genes: NOTCH2

  Turnaround time: 33 working days

• Alagille syndrome type 2 (NOTCH2 gene, NGS)

  Code 3345 · Next-generation sequencing (NGS)

  Genes: NOTCH2

  Turnaround time: 33 working days

• Alagille syndrome types 1 and 2 (2-gene panel, NGS)

  Code 10192 · Next-generation sequencing (NGS)

  Genes: JAG1, NOTCH2

  Turnaround time: 33 working days

• Aldolase B (ALDOB) gene mutation testing

  Code 3028 · Molecular biology

  Genes: ALDOB

  Turnaround time: 11 working days

• Allgrove syndrome (AAAS gene, NGS)

  Code 10208 · Next-generation sequencing (NGS)

  Genes: AAAS

  Turnaround time: 33 working days

• Alpha-thalassemia (2-gene panel, NGS)

  Code 10207 · Next-generation sequencing (NGS)

  Genes: HBA1, HBA2

  Turnaround time: 33 working days

• Alport syndrome (3-gene panel, NGS)

  Code 10211 · Next-generation sequencing (NGS)

  Genes: COL4A3, COL4A4, COL4A5

  Turnaround time: 33 working days