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

453 tests · Page 9 of 16

• Hermansky-Pudlak syndrome (BLOC1S6 gene, NGS)

  Code 10971 · Next-generation sequencing (NGS)

  Genes: BLOC1S6

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (DTNBP1 gene, NGS)

  Code 10969 · Next-generation sequencing (NGS)

  Genes: DTNBP1

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS1 gene, NGS)

  Code 10963 · Next-generation sequencing (NGS)

  Genes: HPS1

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS3 gene, NGS)

  Code 10965 · Next-generation sequencing (NGS)

  Genes: HPS3

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS4 gene, NGS)

  Code 10966 · Next-generation sequencing (NGS)

  Genes: HPS4

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS5 gene, NGS)

  Code 10967 · Next-generation sequencing (NGS)

  Genes: HPS5

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS6 gene, NGS)

  Code 10968 · Next-generation sequencing (NGS)

  Genes: HPS6

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome type 2 (AP3B1 gene, NGS)

  Code 10962 · Next-generation sequencing (NGS)

  Genes: AP3B1

  Turnaround time: 33 working days

• Heterotaxy (ACVR2B gene, NGS)

  Code 10976 · Next-generation sequencing (NGS)

  Genes: ACVR2B

  Turnaround time: 33 working days

• Heterotaxy and situs inversus (34-gene panel, NGS)

  Code 10978 · Next-generation sequencing (NGS)

  Genes: ACVR2B, ANKS6, ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40 and 26 more

  Turnaround time: 33 working days

• Heterotaxy (CFC1 gene, NGS)

  Code 10973 · Next-generation sequencing (NGS)

  Genes: CFC1

  Turnaround time: 33 working days

• Heterotaxy (NODAL gene, NGS)

  Code 10975 · Next-generation sequencing (NGS)

  Genes: NODAL

  Turnaround time: 33 working days

• Heterotaxy (ZIC3 gene, NGS)

  Code 10977 · Next-generation sequencing (NGS)

  Genes: ZIC3

  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 (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

• Holt-Oram syndrome (TBX5 gene, NGS)

  Code 11034 · Next-generation sequencing (NGS)

  Genes: TBX5

  Turnaround time: 33 working days

• Hutchinson-Gilford progeria syndrome (LMNA gene, NGS)

  Code 11039 · Next-generation sequencing (NGS)

  Genes: LMNA

  Turnaround time: 33 working days

• Hydrolethalus syndrome (HYLS1 gene, NGS)

  Code 10984 · Next-generation sequencing (NGS)

  Genes: HYLS1

  Turnaround time: 33 working days

• Hyperhomocysteinemia (MTHFR gene, NGS)

  Code 10995 · Next-generation sequencing (NGS)

  Genes: MTHFR

  Turnaround time: 33 working days