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

617 tests · Page 9 of 21

• Ehlers-Danlos syndrome type IV (COL3A1 gene, NGS)

  Code 3276 · Next-generation sequencing (NGS)

  Genes: COL3A1

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type IV (vascular) (COL3A1 gene, NGS)

  Code 10815 · Next-generation sequencing (NGS)

  Genes: COL3A1

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type VI (PLOD1 gene, NGS)

  Code 10816 · Next-generation sequencing (NGS)

  Genes: PLOD1

  Turnaround time: 33 working days

• Emberger syndrome (GATA2 gene, NGS)

  Code 10823 · Next-generation sequencing (NGS)

  Genes: GATA2

  Turnaround time: 33 working days

• Epidermolysis bullosa simplex (KRT14 gene, NGS)

  Code 10868 · Next-generation sequencing (NGS)

  Genes: KRT14

  Turnaround time: 33 working days

• Exclusion of homozygosity in Huntington disease

  Code 3142 · Molecular hybridization / PCR

  Genes: HTT

  Turnaround time: 21 working days

• Exclusion of uniparental disomy of chromosome 14

  Code 3054 · Cytogenetic analysis

  Genes: Dissomia uniparental do cromossoma 14

  Turnaround time: 15 working days

• Exclusion of uniparental disomy of chromosome 7

  Code 3063 · Cytogenetic analysis

  Genes: Dissomia uniparental do cromossoma 7

  Turnaround time: 15 working days

• Exome, complete sequencing

  Code 3208 · Next-generation sequencing (NGS)

  Genes: Exoma

  Turnaround time: 75 working days

• Exome without interpretation (data only), NGS

  Code 3326 · Next-generation sequencing (NGS)

  Genes: Exoma sem análise

  Turnaround time: 33 working days

• Facioscapulohumeral dystrophy

  Code 3017 · Molecular biology

  Genes: SMCHD1

  Turnaround time: 93 working days

• Factor XIII deficiency [Val34Leu mutation] (F13A1 gene, sequencing)

  Code 3332 · Sanger sequencing

  Genes: mutação Val34Leu gene F13A1

  Turnaround time: 33 working days

• Fahr syndrome (11-gene panel, NGS)

  Code 10029 · Next-generation sequencing (NGS)

  Genes: ADAR, IFIH1, PDGFB, PDGFRB, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1 and 3 more

  Turnaround time: 33 working days

• Familial amyloid polyneuropathy (FAP)

  Code 2445 · PCR

  Genes: TTR

  Turnaround time: 33 working days

• Familial dysautonomia (Riley-Day syndrome) (IKBKAP gene, NGS)

  Code 10647 · Next-generation sequencing (NGS)

  Genes: IKBKAP

  Turnaround time: 33 working days

• Familial hemiplegic migraine (4-gene panel, NGS)

  Code 10024 · Next-generation sequencing (NGS)

  Genes: ATP1A2, CACNA1A, PRRT2, SCN1A

  Turnaround time: 33 working days

• Familial hypercholesterolemia (2-gene panel, NGS)

  Code 10988 · Next-generation sequencing (NGS)

  Genes: APOB, LDLR

  Turnaround time: 33 working days

• Familial hypercholesterolemia (5-gene panel, NGS)

  Code 3274 · Next-generation sequencing (NGS)

  Genes: APOB, GHR, PCSK9, LDLRAP1, LDLR

  Turnaround time: 33 working days

• Familial intrahepatic cholestasis (gene panel, NGS)

  Code 3379 · Next-generation sequencing (NGS)

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 20 working days

• Familial spastic paraplegia 13 (HSPD1 gene, NGS)

  Code 11261 · Next-generation sequencing (NGS)

  Genes: HSPD1

  Turnaround time: 33 working days

• Familial thoracic aortic aneurysm (TGFBR1 gene, NGS)

  Code 10268 · Next-generation sequencing (NGS)

  Genes: TGFBR1

  Turnaround time: 33 working days

• Familial thoracic aortic aneurysm (TGFBR2 gene, NGS)

  Code 10267 · Next-generation sequencing (NGS)

  Genes: TGFBR2

  Turnaround time: 33 working days

• Familial thrombotic thrombocytopenic purpura, Upshaw-Schulman syndrome (ADAMTS13 gene, NGS)

  Code 11325 · Next-generation sequencing (NGS)

  Genes: ADAMTS13

  Turnaround time: 33 working days

• Familial variant in the NBEA gene [c.6839A>G (p.Tyr2280Cys)]

  Code 3521 · Sequencing

  Genes: NBEA [c.6839A>G (p.Tyr2280Cys)

  Turnaround time: 24 working days

• Familial variant testing, TSC1 gene

  Code 3179 · Sequencing

  Genes: TSC1

  Turnaround time: 24 working days

• Fanconi anemia (FANCD2 gene, NGS)

  Code 10241 · Next-generation sequencing (NGS)

  Genes: FANCD2

  Turnaround time: 33 working days

• Fanconi-Bickel syndrome (SLC2A2 gene, NGS)

  Code 10919 · Next-generation sequencing (NGS)

  Genes: SLC2A2

  Turnaround time: 33 working days

• Fatty acid oxidation disorders (26-gene panel, NGS)

  Code 10180 · Next-generation sequencing (NGS)

  Genes: ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ALDH5A1 and 18 more

  Turnaround time: 33 working days

• Feingold syndrome (MYCN gene, NGS)

  Code 10920 · Next-generation sequencing (NGS)

  Genes: MYCN

  Turnaround time: 33 working days

• FGFR3 gene mutation testing (achondroplasia)

  Code 3079 · Sequencing

  Genes: FGFR3

  Turnaround time: 33 working days