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 6 of 8

• Left ventricular noncompaction cardiomyopathy (LVCN) (22-gene panel, NGS)

  Code 11127 · Next-generation sequencing (NGS)

  Genes: ACTC1, ACTN2, DMD, DNAJC19, DTNA, FHL1, HCN4, LDB3 and 14 more

  Turnaround time: 33 working days

• Left ventricular noncompaction cardiomyopathy (LVNC) (13-gene panel, NGS)

  Code 10428 · Next-generation sequencing (NGS)

  Genes: LDB3, TAZ, MYH7, MYBPC3, ACTC1, TNNT2, SCN5A, LMNA and 5 more

  Turnaround time: 33 working days

• LEOPARD syndrome (PTPN11 gene, NGS)

  Code 11079 · Next-generation sequencing (NGS)

  Genes: PTPN11

  Turnaround time: 33 working days

• LEOPARD syndrome (RAF1 gene, NGS)

  Code 11080 · Next-generation sequencing (NGS)

  Genes: RAF1

  Turnaround time: 33 working days

• Lipid metabolism testing (15-gene panel, NGS)

  Code 3347 · Next-generation sequencing (NGS)

  Genes: ABCA1, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOE, GPIHBP1 and 7 more

  Turnaround time: 33 working days

• Loeys-Dietz syndrome (6-gene panel, NGS)

  Code 11112 · Next-generation sequencing (NGS)

  Genes: SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2

  Turnaround time: 33 working days

• Loeys-Dietz syndrome (TGFBR1 gene, NGS)

  Code 11111 · Next-generation sequencing (NGS)

  Genes: TGFBR1

  Turnaround time: 33 working days

• Loeys-Dietz syndrome (TGFBR2 gene, NGS)

  Code 11110 · Next-generation sequencing (NGS)

  Genes: TGFBR2

  Turnaround time: 33 working days

• Long QT syndrome (12-gene panel, NGS)

  Code 11327 · Next-generation sequencing (NGS)

  Genes: KCNQ1, KCNH2, SCN5A, ANK2, KCNE1, KCNE2, KCNJ2, CACNA1C and 4 more

  Turnaround time: 33 working days

• Long QT syndrome (gene panel, NGS)

  Code 3416 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Long QT syndrome (WES-based panel, NGS, CNVs)

  Code 3464 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• LPL gene sequencing

  Code 3133 · Sequencing

  Genes: LPL

  Turnaround time: 33 working days

• Marfan syndrome (21-gene panel, NGS)

  Code 3288 · Next-generation sequencing (NGS)

  Genes: ACTA2, CBS, COL11A1, COL11A2, COL2A1, COL3A1, COL5A1, COL5A2 and 13 more

  Turnaround time: 33 working days

• Marfan syndrome (3-gene panel, NGS)

  Code 11117 · Next-generation sequencing (NGS)

  Genes: TGFBR1, TGFBR2, FBN1

  Turnaround time: 33 working days

• Marfan syndrome (FBN1 gene, NGS)

  Code 11115 · Next-generation sequencing (NGS)

  Genes: FBN1

  Turnaround time: 33 working days

• Marshall-Smith syndrome (NFIX gene, NGS)

  Code 11118 · Next-generation sequencing (NGS)

  Genes: NFIX

  Turnaround time: 33 working days

• Mitochondrial trifunctional protein deficiency (HADHB gene, NGS)

  Code 10590 · Next-generation sequencing (NGS)

  Genes: HADHB

  Turnaround time: 33 working days

• Molecular testing for hemochromatosis [EMH] (S65C, C282Y and H63D)

  Code 3016 · Molecular biology

  Genes: HFE

  Turnaround time: 30 working days

• Mowat-Wilson syndrome (ZEB2 gene, NGS)

  Code 11141 · Next-generation sequencing (NGS)

  Genes: ZEB2

  Turnaround time: 33 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

• 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

• Multiple cerebral cavernous malformations, c.1363C>T mutation, KRIT1 gene

  Code 10430 · Next-generation sequencing (NGS)

  Genes: KRIT1

  Turnaround time: 33 working days

• Multiple cerebral cavernous malformations (CCM2 gene, NGS)

  Code 10431 · Next-generation sequencing (NGS)

  Genes: CCM2

  Turnaround time: 33 working days

• Multiple cerebral cavernous malformations (KRIT1 gene, NGS)

  Code 10433 · Next-generation sequencing (NGS)

  Genes: KRIT1

  Turnaround time: 33 working days

• Multiple cerebral cavernous malformations (PDCD10 gene, NGS)

  Code 10432 · Next-generation sequencing (NGS)

  Genes: PDCD10

  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