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

774 tests · Page 19 of 26

• 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

• 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 complex IV deficiency (FASTKD2 gene, NGS)

  Code 10555 · Next-generation sequencing (NGS)

  Genes: FASTKD2

  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

• Mitochondrial DNA depletion syndrome (17-gene panel, NGS)

  Code 10621 · Next-generation sequencing (NGS)

  Genes: AGK, DGUOK, FBXL4, MGME1, MPV17, OPA1, POLG, RRM2B and 6 more

  Turnaround time: 33 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

• Mitochondrial trifunctional protein deficiency (HADHB gene, NGS)

  Code 10590 · Next-generation sequencing (NGS)

  Genes: HADHB

  Turnaround time: 33 working days

• Miyoshi myopathy (DYSF gene, NGS)

  Code 11132 · Next-generation sequencing (NGS)

  Genes: DYSF

  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 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

• Molecular testing of the SCA3 gene (Machado-Joseph disease)

  Code 3012 · PCR

  Genes: Pesquisa da expansão CAG no gene ATXN3

  Turnaround time: 33 working days

• Mowat-Wilson syndrome (ZEB2 gene, NGS)

  Code 11141 · Next-generation sequencing (NGS)

  Genes: ZEB2

  Turnaround time: 33 working days

• Mucolipidosis (GNPTAB gene, NGS)

  Code 11144 · Next-generation sequencing (NGS)

  Genes: GNPTAB

  Turnaround time: 33 working days

• Mucolipidosis (GNPTG gene, NGS)

  Code 11145 · Next-generation sequencing (NGS)

  Genes: GNPTG

  Turnaround time: 33 working days

• Mucolipidosis type 4 (MCOLN1 gene, NGS)

  Code 11143 · Next-generation sequencing (NGS)

  Genes: MCOLN1

  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

• Mucopolysaccharidosis type VII (GUSB gene, NGS)

  Code 11156 · Next-generation sequencing (NGS)

  Genes: GUSB

  Turnaround time: 33 working days

• Multiminicore myopathy (2-gene panel, NGS)

  Code 11134 · Next-generation sequencing (NGS)

  Genes: SEPN1, RYR1

  Turnaround time: 33 working days

• Multiple cerebral cavernous malformations, c.1363C>T mutation, KRIT1 gene

  Code 10430 · Next-generation sequencing (NGS)

  Genes: KRIT1

  Turnaround time: 33 working days

• Multiple cerebral cavernous malformations (CCM2 gene, NGS)

  Code 10431 · Next-generation sequencing (NGS)

  Genes: CCM2

  Turnaround time: 33 working days

• Multiple cerebral cavernous malformations (KRIT1 gene, NGS)

  Code 10433 · Next-generation sequencing (NGS)

  Genes: KRIT1

  Turnaround time: 33 working days

• Multiple cerebral cavernous malformations (PDCD10 gene, NGS)

  Code 10432 · Next-generation sequencing (NGS)

  Genes: PDCD10

  Turnaround time: 33 working days