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 5 of 21

• CADASIL type I (NOTCH3 gene, NGS)

  Code 3245 · Next-generation sequencing (NGS)

  Genes: NOTCH3

  Turnaround time: 33 working days

• Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (PRG4 gene, NGS)

  Code 10415 · Next-generation sequencing (NGS)

  Genes: PRG4

  Turnaround time: 33 working days

• Camurati-Engelmann syndrome (TGFB1 gene, NGS)

  Code 10416 · Next-generation sequencing (NGS)

  Genes: TGFB1

  Turnaround time: 33 working days

• Cantú syndrome (ABCC9 gene, NGS)

  Code 10419 · Next-generation sequencing (NGS)

  Genes: ABCC9

  Turnaround time: 33 working days

• CARASIL (HTRA1 gene, sequencing)

  Code 3246 · Sanger sequencing

  Genes: HTRA1

  Turnaround time: 33 working days

• Cardiofaciocutaneous syndrome (4-gene panel, NGS)

  Code 10421 · Next-generation sequencing (NGS)

  Genes: KRAS, BRAF, MAP2K1, MAP2K2

  Turnaround time: 33 working days

• Caudal regression syndrome (VANGL1 gene, NGS)

  Code 11330 · Next-generation sequencing (NGS)

  Genes: VANGL1

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease and related hereditary motor and sensory neuropathies (101-gene panel, NGS)

  Code 10020 · Next-generation sequencing (NGS)

  Genes: AARS, AIFM1, AMACR, ARHGEF10, ATL1, ATL3, ATP7A, BAG3 and 93 more

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease, basic panel (52-gene panel, NGS)

  Code 10485 · Next-generation sequencing (NGS)

  Genes: AARS, AIFM1, ATP1A1, COX6A1, DHTKD1, DNM2, DYNC1H1, EGR2 and 44 more

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease, dominant intermediate B (DNM2 gene, NGS)

  Code 10468 · Next-generation sequencing (NGS)

  Genes: DNM2

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 1A (PMP22 gene, NGS)

  Code 10436 · Next-generation sequencing (NGS)

  Genes: PMP22

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 1B (MPZ gene, NGS)

  Code 10437 · Next-generation sequencing (NGS)

  Genes: MPZ

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 1B (MPZ gene, sequencing + MLPA)

  Code 3249 · Sanger sequencing + MLPA

  Genes: MPZ

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 1B (PMP22 gene, MLPA)

  Code 3257 · MLPA

  Genes: PMP22

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 1C (LITAF gene, NGS)

  Code 10438 · Next-generation sequencing (NGS)

  Genes: LITAF

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 1D (EGR2 gene, NGS)

  Code 10439 · Next-generation sequencing (NGS)

  Genes: EGR2

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 1F (NEFL gene, NGS)

  Code 10440 · Next-generation sequencing (NGS)

  Genes: NEFL

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 20 (DYNC1H1 gene, NGS)

  Code 10441 · Next-generation sequencing (NGS)

  Genes: DYNC1H1

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 2A1 (KIF1B gene, NGS)

  Code 10442 · Next-generation sequencing (NGS)

  Genes: KIF1B

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 2A2 (MFN2 gene, NGS)

  Code 10443 · Next-generation sequencing (NGS)

  Genes: MFN2

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 2B1 (LMNA gene, NGS)

  Code 10445 · Next-generation sequencing (NGS)

  Genes: LMNA

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 2B (RAB7A gene, NGS)

  Code 10444 · Next-generation sequencing (NGS)

  Genes: RAB7A

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 2C (TRPV4 gene, NGS)

  Code 10446 · Next-generation sequencing (NGS)

  Genes: TRPV4

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 2D (GARS gene, NGS)

  Code 10447 · Next-generation sequencing (NGS)

  Genes: GARS

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 2E (NEFL gene, NGS)

  Code 10448 · Next-generation sequencing (NGS)

  Genes: NEFL

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 2F (HSPB1 gene, NGS)

  Code 10449 · Next-generation sequencing (NGS)

  Genes: HSPB1

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 2J (MPZ gene, NGS)

  Code 10450 · Next-generation sequencing (NGS)

  Genes: MPZ

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 2K (GDAP1 gene, NGS)

  Code 10451 · Next-generation sequencing (NGS)

  Genes: GDAP1

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 2L (HSPB8 gene, NGS)

  Code 10452 · Next-generation sequencing (NGS)

  Genes: HSPB8

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 2N (AARS gene, NGS)

  Code 10453 · Next-generation sequencing (NGS)

  Genes: AARS

  Turnaround time: 33 working days