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

237 tests · Page 5 of 8

• Familial thoracic aortic aneurysm (SMAD3 gene, NGS)

  Code 10264 · Next-generation sequencing (NGS)

  Genes: SMAD3

  Turnaround time: 33 working days

• Familial thoracic aortic aneurysm type 8 (PRKG1 gene, NGS)

  Code 10269 · Next-generation sequencing (NGS)

  Genes: PRKG1

  Turnaround time: 33 working days

• Familial vascular leukoencephalopathy (COL4A1 gene, NGS)

  Code 11087 · Next-generation sequencing (NGS)

  Genes: COL4A1

  Turnaround time: 33 working days

• Feingold syndrome (MYCN gene, NGS)

  Code 10920 · Next-generation sequencing (NGS)

  Genes: MYCN

  Turnaround time: 33 working days

• Floating-Harbor syndrome (SRCAP gene, NGS)

  Code 10915 · Next-generation sequencing (NGS)

  Genes: SRCAP

  Turnaround time: 33 working days

• Galactosialidosis (CTSA gene, NGS)

  Code 10930 · Next-generation sequencing (NGS)

  Genes: CTSA

  Turnaround time: 33 working days

• GAPO syndrome (ANTXR1 gene, NGS)

  Code 10932 · Next-generation sequencing (NGS)

  Genes: ANTXR1

  Turnaround time: 33 working days

• Genetic abnormalities of thrombomodulin (THBD gene, NGS)

  Code 10281 · Next-generation sequencing (NGS)

  Genes: THBD

  Turnaround time: 33 working days

• Genetic risk factors associated with arterial hypertension

  Code 3103 · DNA microchip

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 13 working days

• Genetic testing for protein S

  Code 3053 · Cytogenetic analysis

  Genes: PROS1

  Turnaround time: 3 months

• Genetic testing for prothrombotic risk factors [EGFRP]

  Code 3015 · PCR

  Genes: Factor V de Leiden, Mutação G20210A no gene F2 Mutação C677T no gene MTHFR Mutação A1298C no gene MTHFR Alelos 4G/5G no gene PAI1

  Turnaround time: 10 working days

• GJA1 gene testing (sequencing)

  Code 3337 · Sanger sequencing

  Genes: GJA1

  Turnaround time: 30 working days

• Glomuvenous malformations (GLMN gene, NGS)

  Code 11113 · Next-generation sequencing (NGS)

  Genes: GLMN

  Turnaround time: 33 working days

• GNAS gene testing (sequencing)

  Code 3328 · Sanger sequencing

  Genes: GNAS

  Turnaround time: 33 working days

• Hemochromatosis (6-gene panel, NGS)

  Code 3356 · Next-generation sequencing (NGS)

  Genes: HAMP, HFE, HJV, SLC40A1, TFR2, FTH1

  Turnaround time: 33 working days

• Hemochromatosis (HFE gene, NGS)

  Code 10981 · Next-generation sequencing (NGS)

  Genes: HFE

  Turnaround time: 33 working days

• Hereditary arrhythmias (65-gene panel, NGS)

  Code 10288 · Next-generation sequencing (NGS)

  Genes: AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, GPD1L, HCN4 and 53 more

  Turnaround time: 33 working days

• Hereditary thrombophilia (gene panel, NGS)

  Code 3450 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Holt-Oram syndrome (TBX5 gene, NGS)

  Code 11034 · Next-generation sequencing (NGS)

  Genes: TBX5

  Turnaround time: 33 working days

• Homocystinuria due to cystathionine beta-synthase deficiency (6-gene panel, NGS)

  Code 11036 · Next-generation sequencing (NGS)

  Genes: CBS, MMACHC, MMADHC, MTHFR, MTR, MTRR

  Turnaround time: 33 working days

• Homocystinuria due to cystathionine beta-synthase deficiency (CBS gene, NGS)

  Code 11035 · Next-generation sequencing (NGS)

  Genes: CBS

  Turnaround time: 33 working days

• Hydrolethalus syndrome (HYLS1 gene, NGS)

  Code 10984 · Next-generation sequencing (NGS)

  Genes: HYLS1

  Turnaround time: 33 working days

• Hyperhomocysteinemia (MTHFR gene, NGS)

  Code 10995 · Next-generation sequencing (NGS)

  Genes: MTHFR

  Turnaround time: 33 working days

• Hyperlipoproteinemia type 1 (LPL gene, NGS)

  Code 10999 · Next-generation sequencing (NGS)

  Genes: LPL

  Turnaround time: 33 working days

• Hypertrophic cardiomyopathy (HCM) (37-gene panel, NGS)

  Code 10424 · Next-generation sequencing (NGS)

  Genes: MYH7, MYBPC3, TNNT2, TNNI3, TPM1, ACTC1, MYL2, MYL3 and 29 more

  Turnaround time: 33 working days

• Hypertrophic cardiomyopathy (WES-based panel, NGS, CNVs)

  Code 3458 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• J-wave syndromes (gene panel, NGS)

  Code 3418 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Kabuki syndrome (KDM6A gene, NGS)

  Code 11066 · Next-generation sequencing (NGS)

  Genes: KDM6A

  Turnaround time: 33 working days

• Kabuki syndrome (KMT2D gene, NGS)

  Code 11065 · Next-generation sequencing (NGS)

  Genes: KMT2D

  Turnaround time: 33 working days

• LDL receptor (LDLR) gene mutation testing

  Code 3129 · MLPA / PCR

  Genes: FHCL1

  Turnaround time: 33 working days