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 2 of 8

• CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) (2-gene panel, NGS)

  Code 10406 · Next-generation sequencing (NGS)

  Genes: HTRA1, NOTCH3

  Turnaround time: 33 working days

• CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) (NOTCH3 gene, NGS)

  Code 10405 · Next-generation sequencing (NGS)

  Genes: NOTCH3

  Turnaround time: 33 working days

• CADASIL [Notch3 gene mutations]

  Code 3024 · Molecular biology

  Genes: NOTCH3

  Turnaround time: 35 working days

• CADASIL type I (NOTCH3 gene, NGS)

  Code 3245 · Next-generation sequencing (NGS)

  Genes: NOTCH3

  Turnaround time: 33 working days

• Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (PRG4 gene, NGS)

  Code 10415 · Next-generation sequencing (NGS)

  Genes: PRG4

  Turnaround time: 33 working days

• Cantú syndrome (ABCC9 gene, NGS)

  Code 10419 · Next-generation sequencing (NGS)

  Genes: ABCC9

  Turnaround time: 33 working days

• CARASIL (HTRA1 gene, NGS)

  Code 10420 · Next-generation sequencing (NGS)

  Genes: HTRA1

  Turnaround time: 33 working days

• Cardiac channelopathies (21-gene panel, NGS)

  Code 10417 · Next-generation sequencing (NGS)

  Genes: AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, GPD1L, HCN4 and 13 more

  Turnaround time: 33 working days

• Cardiac conduction disease (CCD) (SCN5A gene, NGS)

  Code 10849 · Next-generation sequencing (NGS)

  Genes: SCN5A

  Turnaround time: 33 working days

• Cardiac conduction system disease (gene panel, NGS)

  Code 3414 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Cardiofaciocutaneous syndrome (4-gene panel, NGS)

  Code 10421 · Next-generation sequencing (NGS)

  Genes: KRAS, BRAF, MAP2K1, MAP2K2

  Turnaround time: 33 working days

• Cardiology panel (up to 100 genes, WES, NGS, CNVs)

  Code 3519 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Cardiology panel (up to 10 genes, WES, NGS, CNVs)

  Code 3513 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Cardiology, single gene (WES, NGS, CNVs)

  Code 3532 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Cardiomyopathies (110-gene panel, NGS)

  Code 11128 · Next-generation sequencing (NGS)

  Genes: ABCC9, ACTA1, ACTC1, ACTN2, ALMS1, AMPD1, ANKRD1, ANO5 and 102 more

  Turnaround time: 33 working days

• Cardiomyopathies (201-gene panel, NGS)

  Code 3338 · Next-generation sequencing (NGS)

  Genes: AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK and 193 more

  Turnaround time: 33 working days

• Cardiomyopathies (WES-based panel, NGS, CNVs)

  Code 3461 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Cardiomyopathy/myopathy/muscular dystrophy (TTN gene, NGS)

  Code 10429 · Next-generation sequencing (NGS)

  Genes: TTN

  Turnaround time: 33 working days

• Cardiomyopathy, structural heart defects (44-gene panel, NGS)

  Code 10427 · Next-generation sequencing (NGS)

  Genes: ABCC9, ACTC1, ACTN2, AMPD1, CSRP3, CTF1, DES, DMD and 35 more

  Turnaround time: 33 working days

• Cardiovascular diseases and sudden cardiac death (208-gene panel, NGS) [Hereditary cardiovascular diseases and sudden cardiac death (208-gene panel)]

  Code 3287 · Next-generation sequencing (NGS)

  Genes: AARS2, ABCC9, ACAD9, ACADM, ACADVL, ACTA1, ACTA2, ACTC1 and 200 more

  Turnaround time: 33 working days

• CATCH 22 testing (EDTA whole blood) [DiGeorge syndrome]

  Code 3051 · Cytogenetic analysis

  Genes: FISH deleção da região 22q11.2

  Turnaround time: 12 working days

• Catecholaminergic polymorphic ventricular tachycardia (CPVT) (2-gene panel, NGS)

  Code 11345 · Next-generation sequencing (NGS)

  Genes: RYR2, CASQ2

  Turnaround time: 33 working days

• Cerebral cavernous malformations (3-gene panel, NGS)

  Code 10404 · Next-generation sequencing (NGS)

  Genes: KRIT1, PDCD10, CCM2

  Turnaround time: 33 working days

• CHARGE syndrome (CHD7 gene, NGS)

  Code 10471 · Next-generation sequencing (NGS)

  Genes: CHD7

  Turnaround time: 33 working days

• Char syndrome (TFAP2B gene, NGS)

  Code 10435 · Next-generation sequencing (NGS)

  Genes: TFAP2B

  Turnaround time: 33 working days

• CHILD syndrome (NSDHL gene, NGS)

  Code 10473 · Next-generation sequencing (NGS)

  Genes: NSDHL

  Turnaround time: 33 working days

• Clinical exome reanalysis (sequencing)

  Code 3367 · Next-generation sequencing (NGS)

  Turnaround time: 78 working days

• COL4A1 and COL4A2 gene testing (NGS)

  Code 3303 · Next-generation sequencing (NGS)

  Genes: COL4A1, COL4A2

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 1 (AGPAT2 gene, NGS)

  Code 11090 · Next-generation sequencing (NGS)

  Genes: AGPAT2

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 2 (BSCL2 gene, NGS)

  Code 11091 · Next-generation sequencing (NGS)

  Genes: BSCL2

  Turnaround time: 33 working days