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 6 of 26

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

  Code 3536 · Sequencing

  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

• Charcot-Marie-Tooth disease type 4A (GDAP1 gene, NGS)

  Code 10454 · Next-generation sequencing (NGS)

  Genes: GDAP1

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 4B1 (MTMR2 gene, NGS)

  Code 10455 · Next-generation sequencing (NGS)

  Genes: MTMR2

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 4B2 (SBF2 gene, NGS)

  Code 10456 · Next-generation sequencing (NGS)

  Genes: SBF2

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 4C (SH3TC2 gene, NGS)

  Code 10457 · Next-generation sequencing (NGS)

  Genes: SH3TC2

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 4D (NDRG1 gene, NGS)

  Code 10459 · Next-generation sequencing (NGS)

  Genes: NDRG1

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 4D, P.Arg148Stp (Lom) mutation, NDRG1 gene

  Code 10458 · Next-generation sequencing (NGS)

  Genes: NDRG1

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 4E (EGR2 gene, NGS)

  Code 10461 · Next-generation sequencing (NGS)

  Genes: EGR2

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 4E (MPZ gene, NGS)

  Code 10460 · Next-generation sequencing (NGS)

  Genes: MPZ

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 4E (PMP22 gene, NGS)

  Code 10462 · Next-generation sequencing (NGS)

  Genes: PMP22

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 4F (PRX gene, NGS)

  Code 10463 · Next-generation sequencing (NGS)

  Genes: PRX

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 4G, g.13712G>C mutation, HK1 gene

  Code 10464 · Next-generation sequencing (NGS)

  Genes: HK1

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 4G (HK1 gene, NGS)

  Code 10465 · Next-generation sequencing (NGS)

  Genes: HK1

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 4J, c.122T>C (p.Ile41Thr) mutation, FIG4 gene

  Code 10466 · Next-generation sequencing (NGS)

  Genes: FIG4

  Turnaround time: 33 working days