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

774 tests · Page 5 of 26

• Biotinidase deficiency (BTD gene, NGS)

  Code 10544 · Next-generation sequencing (NGS)

  Genes: BTD

  Turnaround time: 33 working days

• Biotin-responsive basal ganglia disease, SLC19A3 (SLC19A3 gene, NGS)

  Code 10852 · Next-generation sequencing (NGS)

  Genes: SLC19A3

  Turnaround time: 33 working days

• Brachydactyly-mental retardation syndrome (HDAC4 gene, NGS)

  Code 10397 · Next-generation sequencing (NGS)

  Genes: HDAC4

  Turnaround time: 33 working days

• BRAF gene mutation analysis

  Code 3072 · PCR

  Genes: BRAF

  Turnaround time: 13 working days

• Brain demyelination due to methionine adenosyltransferase deficiency (MAT1A gene, NGS)

  Code 10625 · Next-generation sequencing (NGS)

  Genes: MAT1A

  Turnaround time: 33 working days

• Branchio-oculo-facial syndrome (TFAP2A gene, NGS)

  Code 10391 · Next-generation sequencing (NGS)

  Genes: TFAP2A

  Turnaround time: 33 working days

• BRESEK syndrome (MBTPS2 gene, NGS)

  Code 10399 · Next-generation sequencing (NGS)

  Genes: MBTPS2

  Turnaround time: 33 working days

• Brody myopathy (ATP2A1 gene, NGS)

  Code 11131 · Next-generation sequencing (NGS)

  Genes: ATP2A1

  Turnaround time: 33 working days

• 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

• Canavan disease (ASPA gene, NGS)

  Code 10418 · Next-generation sequencing (NGS)

  Genes: ASPA

  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

• CARASIL (HTRA1 gene, sequencing)

  Code 3246 · Sanger sequencing

  Genes: HTRA1

  Turnaround time: 33 working days

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

  Code 10429 · Next-generation sequencing (NGS)

  Genes: TTN

  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

• Caudal regression syndrome (VANGL1 gene, NGS)

  Code 11330 · Next-generation sequencing (NGS)

  Genes: VANGL1

  Turnaround time: 33 working days

• Central core disease (RYR1 gene, NGS)

  Code 11195 · Next-generation sequencing (NGS)

  Genes: RYR1

  Turnaround time: 33 working days

• Cerebellar ataxia [CANVAS] (RFC1 gene repeat expansion)

  Code 3470 · Molecular hybridization (PCR)

  Genes: RFC1

  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

• Cerebral lipofuscinosis (14-gene panel, NGS)

  Code 10019 · Next-generation sequencing (NGS)

  Genes: ARSG, ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF and 6 more

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease and related hereditary motor and sensory neuropathies (101-gene panel, NGS)

  Code 10020 · Next-generation sequencing (NGS)

  Genes: AARS, AIFM1, AMACR, ARHGEF10, ATL1, ATL3, ATP7A, BAG3 and 93 more

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease, basic panel (52-gene panel, NGS)

  Code 10485 · Next-generation sequencing (NGS)

  Genes: AARS, AIFM1, ATP1A1, COX6A1, DHTKD1, DNM2, DYNC1H1, EGR2 and 44 more

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease, dominant intermediate B (DNM2 gene, NGS)

  Code 10468 · Next-generation sequencing (NGS)

  Genes: DNM2

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 1A (PMP22 gene, NGS)

  Code 10436 · Next-generation sequencing (NGS)

  Genes: PMP22

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 1B (MPZ gene, NGS)

  Code 10437 · Next-generation sequencing (NGS)

  Genes: MPZ

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 1B (MPZ gene, sequencing + MLPA)

  Code 3249 · Sanger sequencing + MLPA

  Genes: MPZ

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 1B (PMP22 gene, MLPA)

  Code 3257 · MLPA

  Genes: PMP22

  Turnaround time: 33 working days