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 6 of 21

• 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

• Charcot-Marie-Tooth disease type 4J (FIG4 gene, NGS)

  Code 10467 · Next-generation sequencing (NGS)

  Genes: FIG4

  Turnaround time: 33 working days

• CHARGE syndrome (CHD7 gene, NGS)

  Code 10471 · Next-generation sequencing (NGS)

  Genes: CHD7

  Turnaround time: 33 working days

• Char syndrome (TFAP2B gene, NGS)

  Code 10435 · Next-generation sequencing (NGS)

  Genes: TFAP2B

  Turnaround time: 33 working days

• Chediak-Higashi syndrome (LYST gene, NGS)

  Code 10472 · Next-generation sequencing (NGS)

  Genes: LYST

  Turnaround time: 33 working days

• CHILD syndrome (NSDHL gene, NGS)

  Code 10473 · Next-generation sequencing (NGS)

  Genes: NSDHL

  Turnaround time: 33 working days

• CHRNG gene testing (NGS, CNVs)

  Code 3522 · Next-generation sequencing (NGS) + CNVs

  Genes: CHRNG

  Turnaround time: 33 working days

• CINCA syndrome (neonatal-onset multisystem inflammatory disease) (NLRP3 gene, NGS)

  Code 10475 · Next-generation sequencing (NGS)

  Genes: NLRP3

  Turnaround time: 33 working days

• CK syndrome (NSDHL gene, NGS)

  Code 10484 · Next-generation sequencing (NGS)

  Genes: NSDHL

  Turnaround time: 33 working days

• Clinical exome reanalysis (sequencing)

  Code 3367 · Next-generation sequencing (NGS)

  Turnaround time: 78 working days

• CLN3 gene deletion testing

  Code 3066 · Molecular biology

  Genes: CLN3

  Turnaround time: 11 working days

• CLN6 gene testing (NGS, MLPA)

  Code 3500 · Next-generation sequencing (NGS) + MLPA

  Genes: CLN6

  Turnaround time: 33 working days

• CLN7 disease (ceroid lipofuscinosis) (MFSD8 gene, NGS)

  Code 10850 · Next-generation sequencing (NGS)

  Genes: MFSD8

  Turnaround time: 33 working days

• Cockayne syndrome (2-gene panel, NGS)

  Code 10488 · Next-generation sequencing (NGS)

  Genes: ERCC6, ERCC8

  Turnaround time: 33 working days

• Cockayne syndrome (ERCC6 gene, NGS)

  Code 10489 · Next-generation sequencing (NGS)

  Genes: ERCC6

  Turnaround time: 33 working days

• Cockayne syndrome (ERCC8 gene, NGS)

  Code 10487 · Next-generation sequencing (NGS)

  Genes: ERCC8

  Turnaround time: 33 working days

• Coffin-Lowry syndrome (RPS6KA3 gene, NGS)

  Code 10490 · Next-generation sequencing (NGS)

  Genes: RPS6KA3

  Turnaround time: 33 working days

• Cohen syndrome, VPS13B gene c.3348_3349delCT mutation

  Code 10491 · Next-generation sequencing (NGS)

  Genes: VPS13B

  Turnaround time: 33 working days