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

237 tests · Page 7 of 8

• Myotonic dystrophy type 2, CCTG repeat expansion (CNBP gene)

  Code 3216 · Molecular hybridization (PCR)

  Genes: CNBP

  Turnaround time: 63 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 (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

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

  Code 11210 · Next-generation sequencing (NGS)

  Genes: KAT6B

  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 syndrome (MID1 gene, NGS)

  Code 11215 · Next-generation sequencing (NGS)

  Genes: MID1

  Turnaround time: 33 working days

• PAI-1 gene mutations

  Code 3029 · Sequencing

  Genes: PAI1

  Turnaround time: 33 working days

• Parkes Weber syndrome (RASA1 gene, NGS)

  Code 11268 · Next-generation sequencing (NGS)

  Genes: RASA1

  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

• Primary erythromelalgia (SCN10A gene, NGS)

  Code 10889 · Next-generation sequencing (NGS)

  Genes: SCN10A

  Turnaround time: 33 working days

• Primary erythromelalgia (SCN11A gene, NGS)

  Code 10890 · Next-generation sequencing (NGS)

  Genes: SCN11A

  Turnaround time: 33 working days

• Primary erythromelalgia (SCN9A gene, NGS)

  Code 10891 · Next-generation sequencing (NGS)

  Genes: SCN9A

  Turnaround time: 33 working days

• Propionic acidemia (2-gene panel, NGS)

  Code 10120 · Next-generation sequencing (NGS)

  Genes: PCCA, PCCB

  Turnaround time: 33 working days

• Propionic acidemia (PCCA gene, NGS)

  Code 10121 · Next-generation sequencing (NGS)

  Genes: PCCA

  Turnaround time: 33 working days

• Propionic acidemia (PCCB gene, NGS)

  Code 10122 · Next-generation sequencing (NGS)

  Genes: PCCB

  Turnaround time: 33 working days

• Protein C deficiency (PROC gene)

  Code 3146 · Sanger sequencing

  Genes: PROC

  Turnaround time: 33 working days

• Protein S deficiency (PROS1 gene)

  Code 3145 · Sanger sequencing

  Genes: PROS1

  Turnaround time: 33 working days

• Prothrombin gene mutation R 20210

  Code 3003 · PCR

  Genes: F2

  Turnaround time: 8 working days

• Prune belly syndrome (CHRM3 gene, NGS)

  Code 11310 · Next-generation sequencing (NGS)

  Genes: CHRM3

  Turnaround time: 33 working days

• Pseudoxanthoma elasticum (2-gene panel, NGS)

  Code 11320 · Next-generation sequencing (NGS)

  Genes: ABCC6, GGCX

  Turnaround time: 33 working days

• Pulmonary arterial hypertension (WES-based panel, NGS, CNVs)

  Code 3457 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days