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 16 of 21

• 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

• Muckle-Wells syndrome (NLRP3 gene, NGS)

  Code 11142 · Next-generation sequencing (NGS)

  Genes: NLRP3

  Turnaround time: 33 working days

• Mucopolysaccharidosis type 1H, 1S (Hurler syndrome) (IDUA gene, NGS)

  Code 11148 · Next-generation sequencing (NGS)

  Genes: IDUA

  Turnaround time: 33 working days

• Mucopolysaccharidosis type II (Hunter syndrome) (IDS gene, NGS)

  Code 11149 · Next-generation sequencing (NGS)

  Genes: IDS

  Turnaround time: 33 working days

• Mucopolysaccharidosis type IIIB (Sanfilippo B syndrome) (NAGLU gene, NGS)

  Code 11151 · Next-generation sequencing (NGS)

  Genes: NAGLU

  Turnaround time: 33 working days

• Mucopolysaccharidosis type IIIC (Sanfilippo C syndrome) (HGSNAT gene, NGS)

  Code 11152 · Next-generation sequencing (NGS)

  Genes: HGSNAT

  Turnaround time: 33 working days

• Mucopolysaccharidosis type VII (GUSB gene, NGS)

  Code 11156 · Next-generation sequencing (NGS)

  Genes: GUSB

  Turnaround time: 33 working days

• Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) (ARSB gene, NGS)

  Code 11155 · Next-generation sequencing (NGS)

  Genes: ARSB

  Turnaround time: 33 working days

• Multiple endocrine neoplasia type 1 (MEN1 gene, sequencing)

  Code 3278 · Next-generation sequencing (NGS)

  Genes: MEN1

  Turnaround time: 33 working days

• Mutations in the CEBPA gene

  Code 3188 · Sequencing

  Genes: CEBPA

  Turnaround time: 33 working days

• Mutations in the NPM1 gene

  Code 3187 · Sequencing

  Genes: NPM1

  Turnaround time: 33 working days

• MYD88 gene (L265P) mutation testing (bone marrow)

  Code 3121 · Sequencing

  Genes: MYD88

  Turnaround time: 33 working days

• Myotonia congenita, sequencing (CLCN1 gene)

  Code 3211 · Sequencing

  Genes: CLCN1

  Turnaround time: 33 working days

• Myotonic dystrophy type 1 [Steinert] (DMPK gene)

  Code 3020 · PCR / Fragment analysis

  Genes: Expansão CTG no gene DMPK

  Turnaround time: 33 working days

• Myotonic dystrophy type 2, CCTG repeat expansion (CNBP gene)

  Code 3216 · Molecular hybridization (PCR)

  Genes: CNBP

  Turnaround time: 63 working days

• Naegeli-Franceschetti-Jadassohn syndrome (KRT14 gene, NGS)

  Code 11157 · Next-generation sequencing (NGS)

  Genes: KRT14

  Turnaround time: 33 working days

• Nemaline myopathy type 2 (NEB gene, NGS)

  Code 11133 · Next-generation sequencing (NGS)

  Genes: NEB

  Turnaround time: 33 working days

• Neonatal citrullinemia type II (SLC25A13 gene, NGS)

  Code 10483 · Next-generation sequencing (NGS)

  Genes: SLC25A13

  Turnaround time: 33 working days

• Netherton syndrome (SPINK5 gene, NGS)

  Code 3253 · Next-generation sequencing (NGS)

  Genes: SPINK5

  Turnaround time: 33 working days

• Neurofibromatosis-like syndromes (8-gene panel, NGS)

  Code 11165 · Next-generation sequencing (NGS)

  Genes: KIT, KITLG, NF1, NF2, PTPN11, RAF1, SMARCB1, SPRED1

  Turnaround time: 33 working days

• Neurofibromatosis type 1, MLPA (NF1 gene)

  Code 3207 · MLPA

  Genes: NF1

  Turnaround time: 33 working days

• Neurofibromatosis type 1 (point mutation) [Amniotic fluid]

  Code 3147 · Sequencing

  Genes: NF1

  Turnaround time: 30 working days

• Neurofibromatosis type 1, sequencing (NF1 gene)

  Code 3206 · Next-generation sequencing (NGS)

  Genes: NF1

  Turnaround time: 33 working days

• Neurofibromatosis type 2, MLPA (NF2 gene)

  Code 3163 · MLPA

  Genes: NF2

  Turnaround time: 93 working days

• Neurofibromatosis type 2, sequencing (NF2 gene)

  Code 3153 · PCR / Sequencing

  Genes: NF2

  Turnaround time: 93 working days

• NGS panel, 30-50 genes (NGS)

  Code 10089 · Next-generation sequencing (NGS)

  Genes: PAIdo

  Turnaround time: 33 working days

• Nijmegen breakage syndrome (NBN gene, NGS)

  Code 11181 · Next-generation sequencing (NGS)

  Genes: NBN

  Turnaround time: 33 working days

• Noonan-like syndrome with loose anagen hair (SHOC2 gene, NGS)

  Code 11192 · Next-generation sequencing (NGS)

  Genes: SHOC2

  Turnaround time: 33 working days

• Noonan-like syndrome with or without juvenile myelomonocytic leukemia (CBL gene, NGS)

  Code 11193 · Next-generation sequencing (NGS)

  Genes: CBL

  Turnaround time: 33 working days