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

77 tests · Page 3 of 3

• Leukocyte adhesion deficiency type 1 (ITGB2 gene, NGS)

  Code 10565 · Next-generation sequencing (NGS)

  Genes: ITGB2

  Turnaround time: 33 working days

• MEFV P.(Met694Val) (MEFV gene, NGS)

  Code 10914 · Next-generation sequencing (NGS)

  Genes: MEFV

  Turnaround time: 33 working days

• Mevalonic aciduria, porokeratosis 3, hyper-IgD syndrome (MVK gene, NGS)

  Code 10119 · Next-generation sequencing (NGS)

  Genes: MVK

  Turnaround time: 33 working days

• Molecular testing for Rh (D) factor

  Code 3241 · PCR

  Genes: Rh(D)

  Turnaround time: 13 working days

• Muckle-Wells syndrome (NLRP3 gene, NGS)

  Code 11142 · Next-generation sequencing (NGS)

  Genes: NLRP3

  Turnaround time: 33 working days

• Nijmegen breakage syndrome (NBN gene, NGS)

  Code 11181 · Next-generation sequencing (NGS)

  Genes: NBN

  Turnaround time: 33 working days

• Omenn syndrome (PHOX2B gene, NGS)

  Code 11214 · Next-generation sequencing (NGS)

  Genes: PHOX2B

  Turnaround time: 33 working days

• Omenn syndrome (RAG1 gene, NGS)

  Code 11212 · Next-generation sequencing (NGS)

  Genes: RAG1

  Turnaround time: 33 working days

• Omenn syndrome (RAG2 gene, NGS)

  Code 11213 · Next-generation sequencing (NGS)

  Genes: RAG2

  Turnaround time: 33 working days

• Polyarteritis nodosa / Sneddon syndrome (ADA2 gene, NGS)

  Code 11296 · Next-generation sequencing (NGS)

  Genes: ADA2

  Turnaround time: 33 working days

• Properdin deficiency (CFP gene, NGS)

  Code 10589 · Next-generation sequencing (NGS)

  Genes: CFP

  Turnaround time: 33 working days

• Purine nucleoside phosphorylase deficiency (PNP gene, NGS)

  Code 10551 · Next-generation sequencing (NGS)

  Genes: PNP

  Turnaround time: 33 working days

• Reticular dysgenesis (AK2 gene, NGS)

  Code 10657 · Next-generation sequencing (NGS)

  Genes: AK2

  Turnaround time: 33 working days

• Spondylometaphyseal dysplasia with combined immunodeficiency (ACP5 gene, NGS)

  Code 10687 · Next-generation sequencing (NGS)

  Genes: ACP5

  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

• X-linked agammaglobulinemia (BTK gene, NGS)

  Code 10176 · Next-generation sequencing (NGS)

  Genes: BTK

  Turnaround time: 33 working days