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

488 tests · Page 12 of 17

• Metaphyseal chondrodysplasia, Schmid type (COL10A1 gene, NGS)

  Code 10499 · Next-generation sequencing (NGS)

  Genes: COL10A1

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

  Code 10071 · Next-generation sequencing (NGS)

  Genes: KIF11

  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 achondroplasia [amniotic fluid]

  Code 3049 · Sequencing

  Genes: FGFR3

  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 Gilbert syndrome in blood

  Code 1130 · PCR

  Genes: inserção TA no gene UGT1A1

  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 for sickle cell disease [amniotic fluid]

  Code 3050 · Cytogenetic analysis

  Genes: HBB

  Turnaround time: 25 working days

• Mowat-Wilson syndrome (ZEB2 gene, NGS)

  Code 11141 · Next-generation sequencing (NGS)

  Genes: ZEB2

  Turnaround time: 33 working days

• MPL mutation analysis

  Code 3154 · Molecular hybridization (PCR)

  Genes: MPL

  Turnaround time: 10 working days

• MTHFR gene [1298 A-->C mutation] (PCR)

  Code 1911 · Real-time PCR

  Genes: MTHFR

  Turnaround time: 12 working days

• MTHFR gene [677 C-->T mutation] (PCR)

  Code 1011 · PCR

  Genes: MTHFR

  Turnaround time: 8 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 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