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 15 of 21

• MCCC1 gene testing (sequencing)

  Code 3359 · Next-generation sequencing (NGS)

  Genes: MCCC1

  Turnaround time: 33 working days

• MCCC2 gene testing (sequencing)

  Code 3360 · Next-generation sequencing (NGS)

  Genes: MCCC2

  Turnaround time: 33 working days

• McCune-Albright syndrome (GNAS gene, NGS)

  Code 11119 · Next-generation sequencing (NGS)

  Genes: GNAS

  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

• Medium-chain acyl-CoA dehydrogenase deficiency (ACADM gene, sequencing)

  Code 3312 · Sanger sequencing

  Genes: ACADM

  Turnaround time: 33 working days

• Menkes syndrome (ATP7A gene, NGS)

  Code 11120 · Next-generation sequencing (NGS)

  Genes: ATP7A

  Turnaround time: 33 working days

• Methylmalonic acidemia (MMACHC gene, NGS)

  Code 10113 · Next-generation sequencing (NGS)

  Genes: MMACHC

  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

• Microcephaly (75-gene panel, NGS)

  Code 3315 · Next-generation sequencing (NGS)

  Genes: AKT3, ANKLE2, AP4M1, ARFGEF2, ASNS, ASPM, ASXL3, ATR and 67 more

  Turnaround time: 33 working days

• Mitochondrial depletion syndrome type 2 (TK2 gene, NGS)

  Code 10087 · Next-generation sequencing (NGS)

  Genes: TK2

  Turnaround time: 33 working days

• Mitochondrial diseases (mitochondrial DNA sequencing)

  Code 3353 · Sanger sequencing

  Genes: Sequenciação DNA Mitocondrial

  Turnaround time: 33 working days

• MLIP gene testing (NGS, CNVs)

  Code 3514 · Next-generation sequencing (NGS) + CNVs

  Genes: MLIP

  Turnaround time: 33 working days

• MODY type 2 (GCK gene, sequencing)

  Code 3260 · Sanger sequencing

  Genes: GCK

  Turnaround time: 33 working days

• MODY type 3, sequencing (HNF1A gene)

  Code 3218 · Sanger sequencing

  Genes: HNF1A

  Turnaround time: 33 working days

• Molecular testing for alpha thalassemia

  Code 3060 · Cytogenetic analysis

  Genes: HBA1, HBA2

  Turnaround time: 12 working days

• Molecular testing for beta thalassemia

  Code 3061 · Sequencing

  Genes: HBB

  Turnaround time: 24 working days

• Molecular testing for beta thalassemia (amniotic fluid)

  Code 3130 · PCR / Sequencing

  Genes: HBB

  Turnaround time: 16 working days

• Molecular testing for connexin 26 (GJB2 gene) [familial case]

  Code 3033 · Molecular biology

  Genes: GJB2

  Turnaround time: 15 working days

• Molecular testing for connexin 26 (GJB2 gene) [index case]

  Code 3032 · Molecular biology

  Genes: GJB2

  Turnaround time: 15 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 fetal hemoglobinopathies [amniotic fluid]

  Code 3035 · Molecular biology

  Genes: HBA1, HBA2, HBB

  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

• Molecular testing for hemoglobinopathies

  Code 3034 · Molecular biology

  Genes: HBA1, HBA2, HBB

  Turnaround time: 25 working days

• Molecular testing for hemophilia A

  Code 2384 · Molecular hybridization (PCR)

  Genes: F8

  Turnaround time: 33 working days

• Molecular testing for Prader-Willi/Angelman syndrome

  Code 3058 · Molecular biology

  Genes: Análise metilação e deleções/duplicações por MS-MLPA (15q11-13)

  Turnaround time: 20 working days

• Molecular testing of the COMT gene (PCR)

  Code 3132 · PCR

  Genes: COMT

  Turnaround time: 24 working days

• Molecular testing of the CSF3R gene, T618I mutation (blood)

  Code 3176 · PCR

  Genes: CSF3R Mutação T618I

  Turnaround time: 12 working days

• Molecular testing of the GAA gene (Pompe disease)

  Code 3156 · Molecular hybridization (PCR)

  Genes: GAA

  Turnaround time: 23 working days

• Molecular testing of the GLA gene (Fabry disease)

  Code 3152 · PCR / Sequencing

  Genes: GLA

  Turnaround time: 43 working days