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

911 tests · Page 21 of 31

• 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 (MMACHC gene, NGS)

  Code 10113 · Next-generation sequencing (NGS)

  Genes: MMACHC

  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

• Microcephalic osteodysplastic primordial dwarfism type 2 (PCNT gene, NGS)

  Code 10824 · Next-generation sequencing (NGS)

  Genes: PCNT

  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

• Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (KIF11 gene, NGS)

  Code 10071 · Next-generation sequencing (NGS)

  Genes: KIF11

  Turnaround time: 33 working days

• Mitochondrial diseases (mitochondrial DNA sequencing)

  Code 3353 · Sanger sequencing

  Genes: Sequenciação DNA Mitocondrial

  Turnaround time: 33 working days

• Mitochondrial trifunctional protein deficiency (HADHB gene, NGS)

  Code 10590 · Next-generation sequencing (NGS)

  Genes: HADHB

  Turnaround time: 33 working days

• MLIP gene testing (NGS, CNVs)

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

  Genes: MLIP

  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 fetal hemoglobinopathies [amniotic fluid]

  Code 3035 · Molecular biology

  Genes: HBA1, HBA2, HBB

  Turnaround time: 24 working days

• Molecular testing for Gilbert syndrome in blood

  Code 1130 · PCR

  Genes: inserção TA no gene UGT1A1

  Turnaround time: 33 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 Noonan syndrome

  Code 3075 · Sequencing

  Genes: PTPN11

  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 GLA gene (Fabry disease)

  Code 3152 · PCR / Sequencing

  Genes: GLA

  Turnaround time: 43 working days