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

197 tests · Page 6 of 7

• NRAS 16 mutations (codons 12, 13, 59, 61, 117, 146) - liquid biopsy

  Code 4457 · Real-time PCR

  Genes: NRAS 16 mutações

  Turnaround time: 30 working days

• NRAS 16 mutations (codons 12, 13, 59, 61, 117, 146) - tissue biopsy

  Code 4456 · Real-time PCR

  Genes: NRAS 16 mutações

  Turnaround time: 30 working days

• Nutrichip complete (40 SNPs)

  Code 3095 · SNaPshot

  Genes: 40 SNPs

  Turnaround time: 18 working days

• Nutrichip Food intake (12 SNPs)

  Code 3096 · SNaPshot

  Genes: 12 SNPs

  Turnaround time: 23 working days

• Nutrichip inflammatory response and oxidative stress (2 SNPs)

  Code 3099 · SNaPshot

  Genes: 2 SNPs

  Turnaround time: 23 working days

• Nutrichip Lipid metabolism (9 SNPs)

  Code 3097 · SNaPshot

  Genes: 9 SNPs

  Turnaround time: 23 working days

• Nutrichip Thermogenesis gene (1 SNP)

  Code 3098 · SNaPshot

  Genes: 1 SNPs

  Turnaround time: 23 working days

• Oculopharyngeal muscular dystrophy

  Code 3006 · Molecular biology

  Genes: PABPN1

  Turnaround time: 63 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

• Oncology panel (157-gene panel, NGS)

  Code 3310 · Next-generation sequencing (NGS)

  Genes: AIP, AKT1, ALK, APC, ATM, ATR, AXIN2, BAP1 and 149 more

  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

• Pancreatic colipase deficiency (PNLIP gene, NGS)

  Code 10572 · Next-generation sequencing (NGS)

  Genes: PNLIP

  Turnaround time: 33 working days

• Partial methylmalonyl-CoA mutase deficiency (MUT gene, NGS)

  Code 10607 · Next-generation sequencing (NGS)

  Genes: MUT

  Turnaround time: 33 working days

• Perlman syndrome (DIS3L2 gene, NGS)

  Code 11284 · Next-generation sequencing (NGS)

  Genes: DIS3L2

  Turnaround time: 33 working days

• Phosphoenolpyruvate carboxykinase deficiency (PCK1 gene, NGS)

  Code 10574 · Next-generation sequencing (NGS)

  Genes: PCK1

  Turnaround time: 33 working days

• Piebaldism (KIT gene, NGS)

  Code 11291 · Next-generation sequencing (NGS)

  Genes: KIT

  Turnaround time: 33 working days

• PIK3CA - 5 mutations - liquid biopsy

  Code 4461 · Real-time PCR

  Genes: PIK3CA

  Turnaround time: 30 working days

• PIK3CA - 5 mutations - tissue biopsy

  Code 4460 · Real-time PCR

  Genes: PIK3CA

  Turnaround time: 30 working days

• PIK3CA somatic panel, tissue biopsy

  Code 4435 · Next-generation sequencing (NGS)

  Genes: hotspots mutacionais de KRAS, NRAS, BRAF, PIK3CA and AKT1

  Turnaround time: 30 working days

• Porphyria cutanea tarda (UROD gene, NGS)

  Code 11301 · Next-generation sequencing (NGS)

  Genes: UROD

  Turnaround time: 33 working days

• Progressive familial intrahepatic cholestasis 1 (ATP8B1 gene, NGS)

  Code 10494 · Next-generation sequencing (NGS)

  Genes: ATP8B1

  Turnaround time: 33 working days

• Progressive familial intrahepatic cholestasis 3 (ABCB4 gene, NGS)

  Code 10495 · Next-generation sequencing (NGS)

  Genes: ABCB4

  Turnaround time: 33 working days

• Progressive familial intrahepatic cholestasis (3-gene panel, NGS)

  Code 10493 · Next-generation sequencing (NGS)

  Genes: ABCB11, ABCB4, ATP8B1

  Turnaround time: 33 working days

• Pseudohypoaldosteronism type 1 (SCNN1B gene, NGS)

  Code 11316 · Next-generation sequencing (NGS)

  Genes: SCNN1B

  Turnaround time: 33 working days

• Pseudohypoaldosteronism type 1 (SCNN1G gene, NGS)

  Code 11314 · Next-generation sequencing (NGS)

  Genes: SCNN1G

  Turnaround time: 33 working days

• Pyogenic arthritis, pyoderma gangrenosum, acne (PSTPIP1 gene, NGS)

  Code 10289 · Next-generation sequencing (NGS)

  Genes: PSTPIP1

  Turnaround time: 33 working days

• Pyruvate carboxylase deficiency (PC gene, NGS)

  Code 10587 · Next-generation sequencing (NGS)

  Genes: PC

  Turnaround time: 33 working days