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 14 of 26

• Hereditary distal neuropathy (19-gene panel, NGS)

  Code 10021 · Next-generation sequencing (NGS)

  Genes: ATP7A, BSCL2, DCTN1, DNAJB2, FIG4, GAN, GARS, HINT1 and 11 more

  Turnaround time: 33 working days

• Hereditary female cancer (16 hereditary cancer types) (49-gene panel, NGS)

  Code 10042 · Next-generation sequencing (NGS)

  Genes: APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1 and 41 more

  Turnaround time: 33 working days

• Hereditary male cancer (15 hereditary cancer types) (41-gene panel, NGS)

  Code 10043 · Next-generation sequencing (NGS)

  Genes: APC, AXIN2, BMPR1A, BRCA1, BRCA2, CDC73, CDH1, CDK4 and 33 more

  Turnaround time: 33 working days

• Hereditary neuropathy with liability to pressure palsies (HNPP) (PMP22 gene, NGS)

  Code 11171 · Next-generation sequencing (NGS)

  Genes: PMP22

  Turnaround time: 33 working days

• Hereditary pancreatitis (SBDS gene, NGS)

  Code 11239 · Next-generation sequencing (NGS)

  Genes: SBDS

  Turnaround time: 33 working days

• Hereditary sensory and autonomic neuropathy type 1A (SPTLC1 gene, NGS)

  Code 11172 · Next-generation sequencing (NGS)

  Genes: SPTLC1

  Turnaround time: 33 working days

• Hereditary sensory and autonomic neuropathy type 1C (SPTLC2 gene, NGS)

  Code 11173 · Next-generation sequencing (NGS)

  Genes: SPTLC2

  Turnaround time: 33 working days

• Hereditary sensory and autonomic neuropathy type 5 (NGF gene, NGS)

  Code 11174 · Next-generation sequencing (NGS)

  Genes: NGF

  Turnaround time: 33 working days

• Hereditary spastic paraplegia (58-gene panel, NGS)

  Code 10026 · Next-generation sequencing (NGS)

  Genes: ALDH18A1, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1 and 50 more

  Turnaround time: 33 working days

• Hereditary spastic paraplegia (77-gene panel, NGS)

  Code 3219 · Next-generation sequencing (NGS)

  Genes: ABCD1, ADAR, AFG3L2, AIMP1, ALDH18A1, ALS2, AMPD2, AP4B1 and 69 more

  Turnaround time: 48 working days

• Hermansky-Pudlak syndrome (9-gene panel, NGS)

  Code 10972 · Next-generation sequencing (NGS)

  Genes: HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3 and 1 more

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (AP3B1 gene, NGS)

  Code 10964 · Next-generation sequencing (NGS)

  Genes: AP3B1

  Turnaround time: 33 working days

• Heterotaxy (LEFTY2 gene, NGS)

  Code 10974 · Next-generation sequencing (NGS)

  Genes: LEFTY2

  Turnaround time: 33 working days

• Holoprosencephaly (12-gene panel, NGS)

  Code 11033 · Next-generation sequencing (NGS)

  Genes: CDON, FGF8, FGFR1, FOXH1, GLI2, GLI3, NODAL, PTCH1 and 4 more

  Turnaround time: 33 working days

• Holoprosencephaly (CDON gene, NGS)

  Code 11020 · Next-generation sequencing (NGS)

  Genes: CDON

  Turnaround time: 33 working days

• Holoprosencephaly (DISP1 gene, NGS)

  Code 11024 · Next-generation sequencing (NGS)

  Genes: DISP1

  Turnaround time: 33 working days

• Holoprosencephaly (DLL1 gene, NGS)

  Code 11031 · Next-generation sequencing (NGS)

  Genes: DLL1

  Turnaround time: 33 working days

• Holoprosencephaly (FOXH1 gene, NGS)

  Code 11026 · Next-generation sequencing (NGS)

  Genes: FOXH1

  Turnaround time: 33 working days

• Holoprosencephaly (GAS1 gene, NGS)

  Code 11029 · Next-generation sequencing (NGS)

  Genes: GAS1

  Turnaround time: 33 working days

• Holoprosencephaly (GLI2 gene, NGS)

  Code 11032 · Next-generation sequencing (NGS)

  Genes: GLI2

  Turnaround time: 33 working days

• Holoprosencephaly (NODAL gene, NGS)

  Code 11027 · Next-generation sequencing (NGS)

  Genes: NODAL

  Turnaround time: 33 working days

• Holoprosencephaly (PTCH1 gene, NGS)

  Code 11019 · Next-generation sequencing (NGS)

  Genes: PTCH1

  Turnaround time: 33 working days

• Holoprosencephaly (SHH gene, NGS)

  Code 11021 · Next-generation sequencing (NGS)

  Genes: SHH

  Turnaround time: 33 working days

• Holoprosencephaly (SIX3 gene, NGS)

  Code 11022 · Next-generation sequencing (NGS)

  Genes: SIX3

  Turnaround time: 33 working days

• Holoprosencephaly (TDGF1 gene, NGS)

  Code 11028 · Next-generation sequencing (NGS)

  Genes: TDGF1

  Turnaround time: 33 working days

• Holoprosencephaly (TGIF1 gene, NGS)

  Code 11023 · Next-generation sequencing (NGS)

  Genes: TGIF1

  Turnaround time: 33 working days

• Holoprosencephaly (ZIC2 gene, NGS)

  Code 11030 · Next-generation sequencing (NGS)

  Genes: ZIC2

  Turnaround time: 33 working days

• Homocystinuria due to cystathionine beta-synthase deficiency (6-gene panel, NGS)

  Code 11036 · Next-generation sequencing (NGS)

  Genes: CBS, MMACHC, MMADHC, MTHFR, MTR, MTRR

  Turnaround time: 33 working days

• Homocystinuria due to cystathionine beta-synthase deficiency (CBS gene, NGS)

  Code 11035 · Next-generation sequencing (NGS)

  Genes: CBS

  Turnaround time: 33 working days

• Homocystinuria, ile278Thr and Gly3076Ser mutation, CBS gene

  Code 10374 · Next-generation sequencing (NGS)

  Genes: CBS

  Turnaround time: 33 working days