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 5 of 7

• K/N Ras 19/16 mutations - tissue biopsy

  Code 4462 · Real-time PCR

  Genes: K/N Ras 19/16 Mutações

  Turnaround time: 30 working days

• KRAS 19 mutations (codons 12, 13, 59, 61, 117, 146) - liquid biopsy

  Code 4455 · Real-time PCR

  Genes: KRAS 19 mutações

  Turnaround time: 30 working days

• KRAS 19 mutations (codons 12, 13, 59, 61, 117, 146) - tissue biopsy

  Code 4454 · Real-time PCR

  Genes: KRAS 19 mutações

  Turnaround time: 30 working days

• Lactose intolerance, mutation (C-->T-13910), LPH gene

  Code 3100 · PCR

  Genes: LPH

  Turnaround time: 24 working days

• Marshall-Smith syndrome (NFIX gene, NGS)

  Code 11118 · Next-generation sequencing (NGS)

  Genes: NFIX

  Turnaround time: 33 working days

• Meckel syndrome (13-gene panel, NGS)

  Code 11121 · Next-generation sequencing (NGS)

  Genes: B9D1, B9D2, CC2D2A, CEP290, KIF14, MKS1, NPHP3, RPGRIP1L and 5 more

  Turnaround time: 33 working days

• MEFV P.(Met694Val) (MEFV gene, NGS)

  Code 10914 · Next-generation sequencing (NGS)

  Genes: MEFV

  Turnaround time: 33 working days

• Methylmalonic acidemia - homocystinuria type c1431_1433dupAAA, MMACHC gene (MMACHC gene, NGS)

  Code 10114 · Next-generation sequencing (NGS)

  Genes: MMACHC

  Turnaround time: 33 working days

• Methylmalonic acidemia - homocystinuria, type cblC (MMACHC gene, NGS)

  Code 10115 · Next-generation sequencing (NGS)

  Genes: MMACHC

  Turnaround time: 33 working days

• Methylmalonic acidemia (MCEE gene, NGS)

  Code 10112 · Next-generation sequencing (NGS)

  Genes: MCEE

  Turnaround time: 33 working days

• Methylmalonic acidemia (MMAA gene, NGS)

  Code 10111 · Next-generation sequencing (NGS)

  Genes: MMAA

  Turnaround time: 33 working days

• Methylmalonic acidemia (MTR gene, NGS)

  Code 10108 · Next-generation sequencing (NGS)

  Genes: MTR

  Turnaround time: 33 working days

• Methylmalonic acidemia, MUT c.322C>T mutation

  Code 10106 · Next-generation sequencing (NGS)

  Genes: MUT

  Turnaround time: 33 working days

• Methylmalonic acidemia (MUT gene, NGS)

  Code 10109 · Next-generation sequencing (NGS)

  Genes: MUT

  Turnaround time: 33 working days

• Methylmalonic acidemia (TCN2 gene, NGS)

  Code 10110 · Next-generation sequencing (NGS)

  Genes: TCN2

  Turnaround time: 33 working days

• Methylmalonic acidemia, vitamin B12-responsive, type cblB (MMAB gene, NGS)

  Code 10118 · Next-generation sequencing (NGS)

  Genes: MMAB

  Turnaround time: 33 working days

• Methylmalonic acidemia with homocystinuria, type cblF (LMBRD1 gene, NGS)

  Code 10116 · Next-generation sequencing (NGS)

  Genes: LMBRD1

  Turnaround time: 33 working days

• Mevalonic aciduria, porokeratosis 3, hyper-IgD syndrome (MVK gene, NGS)

  Code 10119 · Next-generation sequencing (NGS)

  Genes: MVK

  Turnaround time: 33 working days

• Microbiome (NGS) [Biological sample]

  Code 3398 · Next-generation sequencing (NGS)

  Turnaround time: 15 working days

• Microsatellite instability testing (paraffin)

  Code 4499 · Fragment analysis

  Genes: 5 Microssatélites

  Turnaround time: 21 working days

• Microsatellite instability testing (slides)

  Code 4498 · Fragment analysis

  Genes: 5 Microssatélites

  Turnaround time: 21 working days

• Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (POLG gene, NGS)

  Code 10827 · Next-generation sequencing (NGS)

  Genes: POLG

  Turnaround time: 33 working days

• Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), RRM2B (RRM2B gene, NGS)

  Code 10829 · Next-generation sequencing (NGS)

  Genes: RRM2B

  Turnaround time: 33 working days

• Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), TYMP (TYMP gene, NGS)

  Code 10828 · Next-generation sequencing (NGS)

  Genes: TYMP

  Turnaround time: 33 working days

• Molecular testing for cystic fibrosis variants in amniotic fluid

  Code 3043 · PCR / Fragment analysis

  Genes: CFTR

  Turnaround time: 30 working days

• Molecular testing for factor XII (C46T mutation)

  Code 3247 · PCR

  Genes: F12

  Turnaround time: 24 working days

• Molecular testing for hemochromatosis [EMH] (S65C, C282Y and H63D)

  Code 3016 · Molecular biology

  Genes: HFE

  Turnaround time: 30 working days

• Mowat-Wilson syndrome (ZEB2 gene, NGS)

  Code 11141 · Next-generation sequencing (NGS)

  Genes: ZEB2

  Turnaround time: 33 working days

• Mucopolysaccharidosis type IIIA (Sanfilippo A) (SGSH gene, NGS)

  Code 11150 · Next-generation sequencing (NGS)

  Genes: SGSH

  Turnaround time: 33 working days

• Neutral lipid storage disease with myopathy, without ichthyosis (PNPLA2 gene, NGS)

  Code 10854 · Next-generation sequencing (NGS)

  Genes: PNPLA2

  Turnaround time: 33 working days