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

488 tests · Page 10 of 17

• HLA-B5-CREG typing

  Code 3148 · PCR

  Genes: HLA-B5-CREG

  Turnaround time: 24 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

• HOXB13 gene testing (NGS)

  Code 3527 · Next-generation sequencing (NGS)

  Genes: HOXB13

  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

• Hypochondroplasia, c.1138G>A/C and c.1620C>A/G mutations

  Code 11012 · Next-generation sequencing (NGS)

  Genes: FGFR3

  Turnaround time: 33 working days

• Hypogonadotropic hypogonadism (27-gene panel, NGS)

  Code 3302 · Next-generation sequencing (NGS)

  Genes: ANOS1, CHD7, CUL4B, DCAF17, DUSP6, FEZF1, FGF17, FGF8 and 31 more

  Turnaround time: 33 working days

• Hypophosphatasia (5-gene panel, NGS)

  Code 11015 · Next-generation sequencing (NGS)

  Genes: CLCN5, DMP1, ENPP1, FGF23, PHEX

  Turnaround time: 33 working days

• Hypophosphatasia (ALPL gene, NGS)

  Code 11016 · Next-generation sequencing (NGS)

  Genes: ALPL

  Turnaround time: 33 working days

• Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (MED17 gene, NGS)

  Code 10321 · Next-generation sequencing (NGS)

  Genes: MED17

  Turnaround time: 33 working days

• Intellectual disability, autosomal recessive 41 (KPTN gene, NGS)

  Code 11331 · Next-generation sequencing (NGS)

  Genes: KPTN

  Turnaround time: 33 working days

• Intellectual disability type 41, autosomal recessive (AR) (KPTN gene, NGS)

  Code 3301 · Next-generation sequencing (NGS)

  Genes: KPTN

  Turnaround time: 33 working days

• IQSEC2 gene testing (NGS, CNVs)

  Code 3505 · Next-generation sequencing (NGS) + CNVs

  Genes: IQSEC2

  Turnaround time: 33 working days

• IRF6 gene testing (NGS)

  Code 3528 · Next-generation sequencing (NGS)

  Genes: IRF6

  Turnaround time: 33 working days

• IRF6 gene testing (NGS, CNVs)

  Code 3529 · Next-generation sequencing (NGS) + CNVs

  Genes: IRF6

  Turnaround time: 33 working days

• Isolated breast aplasia (PTPRF gene, NGS)

  Code 10286 · Next-generation sequencing (NGS)

  Genes: PTPRF

  Turnaround time: 33 working days