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 24 of 31

• Noonan syndrome (BRAF gene, NGS)

  Code 11190 · Next-generation sequencing (NGS)

  Genes: BRAF

  Turnaround time: 33 working days

• Noonan syndrome (KRAS gene, NGS)

  Code 11189 · Next-generation sequencing (NGS)

  Genes: KRAS

  Turnaround time: 33 working days

• Noonan syndrome (NRAS gene, NGS)

  Code 11188 · Next-generation sequencing (NGS)

  Genes: NRAS

  Turnaround time: 33 working days

• Noonan syndrome (PTPN11 gene, NGS)

  Code 11191 · Next-generation sequencing (NGS)

  Genes: PTPN11

  Turnaround time: 33 working days

• Noonan syndrome (RAF1 gene, NGS)

  Code 11186 · Next-generation sequencing (NGS)

  Genes: RAF1

  Turnaround time: 33 working days

• Noonan syndrome (RIT1 gene, NGS)

  Code 10067 · Next-generation sequencing (NGS)

  Genes: RIT1

  Turnaround time: 33 working days

• Noonan syndrome (SOS1 gene, NGS)

  Code 11187 · Next-generation sequencing (NGS)

  Genes: SOS1

  Turnaround time: 33 working days

• Ocular albinism type 1 (GPR143 gene, NGS)

  Code 10193 · Next-generation sequencing (NGS)

  Genes: GPR143

  Turnaround time: 33 working days

• Oculocutaneous albinism type 1 (TYR gene, NGS)

  Code 10195 · Next-generation sequencing (NGS)

  Genes: TYR

  Turnaround time: 33 working days

• Oculocutaneous albinism type 2 (MITF gene, NGS)

  Code 10196 · Next-generation sequencing (NGS)

  Genes: MITF

  Turnaround time: 33 working days

• Oculocutaneous albinism type 2 (OCA2 gene, NGS)

  Code 10197 · Next-generation sequencing (NGS)

  Genes: OCA2

  Turnaround time: 33 working days

• Ohdo syndrome, SBBYS type (KAT6B gene, NGS)

  Code 11210 · Next-generation sequencing (NGS)

  Genes: KAT6B

  Turnaround time: 33 working days

• Omenn syndrome (DCLRE1C gene, NGS)

  Code 11211 · Next-generation sequencing (NGS)

  Genes: DCLRE1C

  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

• Opitz-Kaveggia syndrome (MED12 gene, NGS)

  Code 11216 · Next-generation sequencing (NGS)

  Genes: MED12

  Turnaround time: 33 working days

• Opitz syndrome (MID1 gene, NGS)

  Code 11215 · Next-generation sequencing (NGS)

  Genes: MID1

  Turnaround time: 33 working days

• Optic atrophy (14-gene panel, NGS)

  Code 3300 · Next-generation sequencing (NGS)

  Genes: ACO2, AFG3L2, C12ORF65, CISD2, MFN2, NR2F1, OPA1, OPA3 and 6 more

  Turnaround time: 33 working days

• Optic atrophy type 7 (TMEM126A gene, NGS)

  Code 10329 · Next-generation sequencing (NGS)

  Genes: TMEM126A

  Turnaround time: 33 working days

• Organic acidemia/aciduria and cobalamin deficiency (75-gene panel, NGS)

  Code 10130 · Next-generation sequencing (NGS)

  Genes: ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ADK, AHCY, AMN and 67 more

  Turnaround time: 33 working days

• Orofaciodigital syndrome type 1 (OFD1 gene, NGS)

  Code 3277 · Next-generation sequencing (NGS)

  Genes: OFD1

  Turnaround time: 33 working days

• Osteogenesis imperfecta (13-gene panel, NGS)

  Code 11220 · Next-generation sequencing (NGS)

  Genes: COL1A1, COL1A2, CRTAP, LEPRE1, SERPINF1, IFITM5, FKBP10, PPIB and 5 more

  Turnaround time: 33 working days

• Osteogenesis imperfecta (19-gene panel, NGS)

  Code 3282 · Next-generation sequencing (NGS)

  Genes: ALPL, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5 and 11 more

  Turnaround time: 33 working days

• Osteogenesis imperfecta (40-gene panel, NGS)

  Code 11217 · Next-generation sequencing (NGS)

  Genes: AGPS, ALPL, ARSE, B3GAT3, B4GALT7, BMP1, CLCN5, COL1A1 and 32 more

  Turnaround time: 33 working days

• Osteogenesis imperfecta (COL1A1 and COL1A2 genes, NGS)

  Code 3256 · Next-generation sequencing (NGS)

  Genes: COL1A1, COL1A2

  Turnaround time: 33 working days

• Osteogenesis imperfecta (COL1A1 gene, NGS)

  Code 11218 · Next-generation sequencing (NGS)

  Genes: COL1A1

  Turnaround time: 33 working days

• Osteogenesis imperfecta (COL1A2 gene, NGS)

  Code 11219 · Next-generation sequencing (NGS)

  Genes: COL1A2

  Turnaround time: 33 working days

• Osteogenesis imperfecta type IIB (CRTAP gene, NGS)

  Code 11221 · Next-generation sequencing (NGS)

  Genes: CRTAP

  Turnaround time: 33 working days

• Osteogenesis imperfecta, type IX (PPIB gene, NGS)

  Code 11224 · Next-generation sequencing (NGS)

  Genes: PPIB

  Turnaround time: 33 working days