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

453 tests · Page 12 of 16

• Multiple epiphyseal dysplasia type 1 (COMP gene, NGS)

  Code 10680 · Next-generation sequencing (NGS)

  Genes: COMP

  Turnaround time: 33 working days

• Multiple epiphyseal dysplasia type 1 (MATN3 gene, NGS)

  Code 10682 · Next-generation sequencing (NGS)

  Genes: MATN3

  Turnaround time: 33 working days

• Multiple epiphyseal dysplasia type 4 (SLC26A2 gene, NGS)

  Code 10683 · Next-generation sequencing (NGS)

  Genes: SLC26A2

  Turnaround time: 33 working days

• Multiple exostoses (EXT1 gene, NGS)

  Code 10910 · Next-generation sequencing (NGS)

  Genes: EXT1

  Turnaround time: 33 working days

• Multiple exostoses (EXT2 gene, NGS)

  Code 10909 · Next-generation sequencing (NGS)

  Genes: EXT2

  Turnaround time: 33 working days

• Muscle-eye-brain disease (POMGNT1 gene, NGS)

  Code 10853 · Next-generation sequencing (NGS)

  Genes: POMGNT1

  Turnaround time: 33 working days

• Nail-patella-like renal disease (LMX1B gene, NGS)

  Code 11158 · Next-generation sequencing (NGS)

  Genes: LMX1B

  Turnaround time: 33 working days

• Nasu-Hakola disease / Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (2-gene panel, NGS)

  Code 11161 · Next-generation sequencing (NGS)

  Genes: TREM2, TYROBP

  Turnaround time: 33 working days

• Nasu-Hakola disease (TREM2 gene, NGS)

  Code 11159 · Next-generation sequencing (NGS)

  Genes: TREM2

  Turnaround time: 33 working days

• Nasu-Hakola disease (TYROBP gene, NGS)

  Code 11160 · Next-generation sequencing (NGS)

  Genes: TYROBP

  Turnaround time: 33 working days

• Nijmegen breakage syndrome (NBN gene, NGS)

  Code 11181 · Next-generation sequencing (NGS)

  Genes: NBN

  Turnaround time: 33 working days

• Noonan-like syndrome with loose anagen hair (SHOC2 gene, NGS)

  Code 11192 · Next-generation sequencing (NGS)

  Genes: SHOC2

  Turnaround time: 33 working days

• Noonan-like syndrome with or without juvenile myelomonocytic leukemia (CBL gene, NGS)

  Code 11193 · Next-generation sequencing (NGS)

  Genes: CBL

  Turnaround time: 33 working days

• Noonan syndrome and RASopathies (17-gene panel, NGS)

  Code 3230 · Next-generation sequencing (NGS)

  Genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SOS1, SOS2, SPRED1 + DNAmt

  Turnaround time: 33 working days

• 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 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

• 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

• 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 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