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 22 of 31

• 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

• Mucocutaneous venous malformations/Congenital glaucoma (TEK gene, NGS)

  Code 10006 · Next-generation sequencing (NGS)

  Genes: TEK

  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 (10-gene panel, NGS)

  Code 11147 · Next-generation sequencing (NGS)

  Genes: ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, IDS, IDUA and 2 more

  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 IIIA (Sanfilippo A) (SGSH gene, NGS)

  Code 11150 · Next-generation sequencing (NGS)

  Genes: SGSH

  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 IIID (GNS gene, NGS)

  Code 11153 · Next-generation sequencing (NGS)

  Genes: GNS

  Turnaround time: 33 working days

• Mucopolysaccharidosis type IV B (GLB1 gene, NGS)

  Code 11154 · Next-generation sequencing (NGS)

  Genes: GLB1

  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 epiphyseal dysplasia type 1 (COL9A2 gene, NGS)

  Code 10681 · Next-generation sequencing (NGS)

  Genes: COL9A2

  Turnaround time: 33 working days

• Multiple epiphyseal dysplasia type 1 (COMP gene, NGS)

  Code 10680 · Next-generation sequencing (NGS)

  Genes: COMP

  Turnaround time: 33 working days

• Multiple epiphyseal dysplasia type 1 (MATN3 gene, NGS)

  Code 10682 · Next-generation sequencing (NGS)

  Genes: MATN3

  Turnaround time: 33 working days

• Multiple epiphyseal dysplasia type 4 (SLC26A2 gene, NGS)

  Code 10683 · Next-generation sequencing (NGS)

  Genes: SLC26A2

  Turnaround time: 33 working days

• Multiple exostoses (EXT1 gene, NGS)

  Code 10910 · Next-generation sequencing (NGS)

  Genes: EXT1

  Turnaround time: 33 working days

• Multiple exostoses (EXT2 gene, NGS)

  Code 10909 · Next-generation sequencing (NGS)

  Genes: EXT2

  Turnaround time: 33 working days

• Muscle-eye-brain disease (POMGNT1 gene, NGS)

  Code 10853 · Next-generation sequencing (NGS)

  Genes: POMGNT1

  Turnaround time: 33 working days

• Myotonia congenita, sequencing (CLCN1 gene)

  Code 3211 · Sequencing

  Genes: CLCN1

  Turnaround time: 33 working days

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

  Code 11157 · Next-generation sequencing (NGS)

  Genes: KRT14

  Turnaround time: 33 working days

• Nail-patella-like renal disease (LMX1B gene, NGS)

  Code 11158 · Next-generation sequencing (NGS)

  Genes: LMX1B

  Turnaround time: 33 working days

• Nasu-Hakola disease / Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (2-gene panel, NGS)

  Code 11161 · Next-generation sequencing (NGS)

  Genes: TREM2, TYROBP

  Turnaround time: 33 working days

• Nasu-Hakola disease (TREM2 gene, NGS)

  Code 11159 · Next-generation sequencing (NGS)

  Genes: TREM2

  Turnaround time: 33 working days

• Nasu-Hakola disease (TYROBP gene, NGS)

  Code 11160 · Next-generation sequencing (NGS)

  Genes: TYROBP

  Turnaround time: 33 working days