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

911 tests · Page 17 of 31

• HEXB gene testing (sequencing)

  Code 3362 · Sanger sequencing

  Genes: HEXB

  Turnaround time: 15 working days

• 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 (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

• Holt-Oram syndrome (TBX5 gene, NGS)

  Code 11034 · Next-generation sequencing (NGS)

  Genes: TBX5

  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

• HOXB13 gene testing (NGS)

  Code 3527 · Next-generation sequencing (NGS)

  Genes: HOXB13

  Turnaround time: 33 working days

• Huntington disease-like type 1 (PRNP gene, NGS)

  Code 11038 · Next-generation sequencing (NGS)

  Genes: PRNP

  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

• Hydranencephaly/microlissencephaly (NDE1 gene, NGS)

  Code 10982 · Next-generation sequencing (NGS)

  Genes: NDE1

  Turnaround time: 33 working days

• Hydrolethalus syndrome (HYLS1 gene, NGS)

  Code 10984 · Next-generation sequencing (NGS)

  Genes: HYLS1

  Turnaround time: 33 working days

• Hyperekplexia or exaggerated startle syndrome (startle disease) (GLRA1 gene, NGS)

  Code 10992 · Next-generation sequencing (NGS)

  Genes: GLRA1

  Turnaround time: 33 working days

• Hyperekplexia or exaggerated startle syndrome (startle disease) (GLRB gene, NGS)

  Code 10990 · Next-generation sequencing (NGS)

  Genes: GLRB

  Turnaround time: 33 working days

• Hyperekplexia or exaggerated startle syndrome (startle disease) (SLC6A5 gene, NGS)

  Code 10991 · Next-generation sequencing (NGS)

  Genes: SLC6A5

  Turnaround time: 33 working days

• Hyperhomocysteinemia (MTHFR gene, NGS)

  Code 10995 · Next-generation sequencing (NGS)

  Genes: MTHFR

  Turnaround time: 33 working days

• Hyperphenylalaninemia due to BH4 deficiency (5-gene panel, NGS)

  Code 10994 · Next-generation sequencing (NGS)

  Genes: GCH1, PAH, PCBD1, PTS, QDPR

  Turnaround time: 33 working days

• Hyperphenylalaninemia due to BH4 deficiency (PCBD1 gene, NGS)

  Code 10993 · Next-generation sequencing (NGS)

  Genes: PCBD1

  Turnaround time: 33 working days