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

617 tests · Page 17 of 21

• 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

• Oculocutaneous albinism type 1 (TYR gene, NGS)

  Code 10195 · Next-generation sequencing (NGS)

  Genes: TYR

  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 neuropathy mutation testing

  Code 3069 · PCR

  Genes: LHON, 3 mutações frequentes

  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 (COL1A1 and COL1A2 genes, NGS)

  Code 3256 · Next-generation sequencing (NGS)

  Genes: COL1A1, COL1A2

  Turnaround time: 33 working days

• Osteoporosis, autosomal recessive type 4 (CLCN7 gene, NGS)

  Code 11231 · Next-generation sequencing (NGS)

  Genes: CLCN7

  Turnaround time: 33 working days

• Otofaciocervical syndrome (EYA1 gene, NGS)

  Code 11233 · Next-generation sequencing (NGS)

  Genes: EYA1

  Turnaround time: 33 working days

• Otopalatodigital syndrome type 2 (FLNA gene, NGS)

  Code 11234 · Next-generation sequencing (NGS)

  Genes: FLNA

  Turnaround time: 33 working days

• PAI-1 gene mutations

  Code 3029 · Sequencing

  Genes: PAI1

  Turnaround time: 33 working days

• PANK2 and FTL gene testing (NGS)

  Code 3323 · Next-generation sequencing (NGS)

  Genes: PANK2, FTL

  Turnaround time: 33 working days

• Papillon-Lefèvre syndrome (CTSC gene, NGS)

  Code 11243 · Next-generation sequencing (NGS)

  Genes: CTSC

  Turnaround time: 33 working days

• Parkes Weber syndrome (RASA1 gene, NGS)

  Code 11268 · Next-generation sequencing (NGS)

  Genes: RASA1

  Turnaround time: 33 working days

• Parkinson disease 4 (SNCA gene, NGS)

  Code 11271 · Next-generation sequencing (NGS)

  Genes: SNCA

  Turnaround time: 33 working days