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 1 of 17

• 21-hydroxylase deficiency (CYP21A2 gene)

  Code 3174 · Sequencing and MLPA

  Genes: CYP21A2

  Turnaround time: 24 working days

• 21-hydroxylase deficiency (CYP21A2 gene, MLPA)

  Code 3354 · MLPA

  Genes: CYP21A2

  Turnaround time: 33 working days

• 3-M syndrome (COLEC11 gene, NGS)

  Code 10004 · Next-generation sequencing (NGS)

  Genes: COLEC11

  Turnaround time: 33 working days

• 3-M syndrome (CUL7 gene, NGS)

  Code 10003 · Next-generation sequencing (NGS)

  Genes: CUL7

  Turnaround time: 33 working days

• 3-M syndrome (MASP1 gene, NGS)

  Code 10005 · Next-generation sequencing (NGS)

  Genes: MASP1

  Turnaround time: 33 working days

• 3-M syndrome (OBSL1 gene, NGS)

  Code 10002 · Next-generation sequencing (NGS)

  Genes: OBSL1

  Turnaround time: 33 working days

• Aarskog syndrome (FGD1 gene, NGS)

  Code 10095 · Next-generation sequencing (NGS)

  Genes: FGD1

  Turnaround time: 33 working days

• ABO genotyping

  Code 3305 · PCR

  Genes: Genotipagem ABO

  Turnaround time: 18 working days

• Achondrogenesis type 1B (SLC26A2 gene, NGS)

  Code 10131 · Next-generation sequencing (NGS)

  Genes: SLC26A2

  Turnaround time: 33 working days

• Achondrogenesis type II (COL2A1 gene, NGS)

  Code 10132 · Next-generation sequencing (NGS)

  Genes: COL2A1

  Turnaround time: 33 working days

• Achondroplasia (FGFR3 gene, NGS)

  Code 10137 · Next-generation sequencing (NGS)

  Genes: FGFR3

  Turnaround time: 33 working days

• Achondroplasia, p.Gly375Cys (c.1123G>T) and p.Gly380Arg (c.1138G>A and c.1138G>C) mutations, FGFR3 gene

  Code 10136 · Next-generation sequencing (NGS)

  Genes: FGFR3

  Turnaround time: 33 working days

• Achondroplasia, p.Gly380Arg mutation (c.1138G>A and c.1138G>C), FGFR3 gene

  Code 10135 · Next-generation sequencing (NGS)

  Genes: FGFR3

  Turnaround time: 33 working days

• Acrodysostosis 1 and 2, with or without hormone resistance (2-gene panel, NGS)

  Code 10145 · Next-generation sequencing (NGS)

  Genes: PDE4D, PRKAR1A

  Turnaround time: 33 working days

• Adams-Oliver syndrome (8-gene panel, NGS)

  Code 10160 · Next-generation sequencing (NGS)

  Genes: ARHGAP31, DLL4, DOCK6, EOGT, KCTD1, NOTCH1, RBPJ, UBR1

  Turnaround time: 33 working days

• Adams-Oliver syndrome (ARHGAP31 gene, NGS)

  Code 10155 · Next-generation sequencing (NGS)

  Genes: ARHGAP31

  Turnaround time: 33 working days

• Adams-Oliver syndrome (DOCK6 gene, NGS)

  Code 10156 · Next-generation sequencing (NGS)

  Genes: DOCK6

  Turnaround time: 33 working days

• Alagille syndrome type 1 (JAG1 gene, NGS)

  Code 10190 · Next-generation sequencing (NGS)

  Genes: JAG1

  Turnaround time: 33 working days

• Alagille syndrome types 1 and 2 (2-gene panel, NGS)

  Code 10192 · Next-generation sequencing (NGS)

  Genes: JAG1, NOTCH2

  Turnaround time: 33 working days

• Albinism, isolated and syndromic forms (18-gene panel, NGS)

  Code 10194 · Next-generation sequencing (NGS)

  Genes: GPR143, OCA2, SLC45A2, TYRP1, MC1R, SLC24A5, LYST, HPS1 and 10 more

  Turnaround time: 33 working days

• Allgrove syndrome (AAAS gene, NGS)

  Code 10208 · Next-generation sequencing (NGS)

  Genes: AAAS

  Turnaround time: 33 working days

• Alpha-mannosidosis (MAN2B1 gene, NGS)

  Code 10206 · Next-generation sequencing (NGS)

  Genes: MAN2B1

  Turnaround time: 33 working days

• Alport syndrome (gene panel, NGS)

  Code 3506 · Next-generation sequencing (NGS)

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 33 working days

• Ambiguous genitalia (46-gene panel, NGS)

  Code 10069 · Next-generation sequencing (NGS)

  Genes: AMH, AMHR2, AR, ARX, ATRX, BCOR, CDKN1C, CEP41 and 38 more

  Turnaround time: 33 working days

• AMH and AMHR2 gene testing (NGS)

  Code 3501 · Next-generation sequencing (NGS)

  Genes: AMH, AMHR2

  Turnaround time: 33 working days

• Andermann syndrome, c.2436delC mutation, SLC12A6 gene sequencing

  Code 10236 · Next-generation sequencing (NGS)

  Genes: SLC12A6

  Turnaround time: 33 working days

• Andersen syndrome (KCNJ2 gene, NGS)

  Code 10237 · Next-generation sequencing (NGS)

  Genes: KCNJ2

  Turnaround time: 33 working days

• Angelman syndrome (UBE3A gene, NGS)

  Code 10270 · Next-generation sequencing (NGS)

  Genes: UBE3A

  Turnaround time: 33 working days

• Anophthalmia, microphthalmia and anterior segment dysgenesis (25-gene panel, NGS)

  Code 10083 · Next-generation sequencing (NGS)

  Genes: BCOR, BMP4, COL4A1, CYP1B1, FOXC1, FOXE3, FRAS1, FREM1 and 17 more

  Turnaround time: 33 working days

• Anophthalmia - microphthalmia, isolated, MFRP (MFRP gene, NGS)

  Code 10278 · Next-generation sequencing (NGS)

  Genes: MFRP

  Turnaround time: 33 working days