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

258 tests · Page 9 of 9

• RT-PCR testing for t(9;22) (BCR/ABL rearrangement)

  Code 3052 · PCR

  Genes: RT-PCR de t(9;22)

  Turnaround time: 12 working days

• Selenoprotein gene mutation testing

  Code 2456 · PCR

  Genes: SELENOP

  Turnaround time: 33 working days

• Sickle cell disease (HBB gene, NGS)

  Code 10238 · Next-generation sequencing (NGS)

  Genes: HBB

  Turnaround time: 33 working days

• Sitosterolemia (2-gene panel, NGS)

  Code 10928 · Next-generation sequencing (NGS)

  Genes: ABCG5, ABCG8

  Turnaround time: 33 working days

• t(11;14) translocation testing

  Code 3039 · Fluorescence in situ hybridization (FISH)

  Genes: FISH t(11;14)

  Turnaround time: 10 working days

• T-cell clonality - TCRB

  Code 3200 · PCR

  Genes: TCRB

  Turnaround time: 17 working days

• T-cell clonality – TCRG

  Code 3201 · PCR

  Genes: TCRG

  Turnaround time: 17 working days

• Thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene, NGS)

  Code 10260 · Next-generation sequencing (NGS)

  Genes: SLC19A2

  Turnaround time: 33 working days

• Thiopurine methyltransferase deficiency (TPMT gene polymorphisms)

  Code 3295 · Sanger sequencing

  Genes: TPMT

  Turnaround time: 33 working days

• Thrombophilia, FII gene 20210G>A mutation, FV gene 1691G>A mutation; MTHFR gene C.677C>T and C.1298A>C mutations, PAI1 gene 5G/4G -5`UTR mutation (4-gene panel, NGS)

  Code 11348 · Next-generation sequencing (NGS)

  Genes: F2, F5, MTHFR, PAI1

  Turnaround time: 33 working days

• Thrombophilia (SERPINC1 gene, NGS)

  Code 11350 · Next-generation sequencing (NGS)

  Genes: SERPINC1

  Turnaround time: 33 working days

• Trio exome (NGS)

  Code 3290 · Next-generation sequencing (NGS)

  Genes: Exoma Trio (NGS)

  Turnaround time: 33 working days

• UBP1 gene testing (NGS)

  Code 3320 · Next-generation sequencing (NGS)

  Genes: UBP1

  Turnaround time: 33 working days

• Von Hippel-Lindau syndrome (VHL gene, NGS)

  Code 11353 · Next-generation sequencing (NGS)

  Genes: VHL

  Turnaround time: 33 working days

• von Willebrand disease (VWF gene, NGS)

  Code 3322 · Next-generation sequencing (NGS)

  Genes: VWF

  Turnaround time: 33 working days

• X-linked periventricular heterotopia (FLNA gene, NGS)

  Code 10980 · Next-generation sequencing (NGS)

  Genes: FLNA

  Turnaround time: 33 working days

• X-linked sideroblastic anemia (ALAS2 gene, NGS)

  Code 10262 · Next-generation sequencing (NGS)

  Genes: ALAS2

  Turnaround time: 33 working days

• X-linked sideroblastic anemia (ALAS2 gene, sequencing)

  Code 3531 · Sequencing

  Genes: ALAS2

  Turnaround time: 33 working days