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

911 tests · Page 12 of 31

• Ehlers-Danlos syndrome type I/type II (classical) (COL5A2 gene, NGS)

  Code 10811 · Next-generation sequencing (NGS)

  Genes: COL5A2

  Turnaround time: 33 working days

• 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 VIIC (dermatosparaxis) (ADAMTS2 gene, NGS)

  Code 10817 · Next-generation sequencing (NGS)

  Genes: ADAMTS2

  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

• Epidermolysis bullosa simplex (KRT14 gene, NGS)

  Code 10868 · Next-generation sequencing (NGS)

  Genes: KRT14

  Turnaround time: 33 working days

• Epidermolysis bullosa simplex with muscular dystrophy (PLEC gene, NGS)

  Code 10869 · Next-generation sequencing (NGS)

  Genes: PLEC

  Turnaround time: 33 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

• Facial dysostosis (27-gene panel, NGS)

  Code 10746 · Next-generation sequencing (NGS)

  Genes: ALPL, ALX3, ALX4, CHD7, CREBBP, DHODH, DLL3, EFNB1 and 19 more

  Turnaround time: 33 working days

• Facioscapulohumeral dystrophy

  Code 3017 · Molecular biology

  Genes: SMCHD1

  Turnaround time: 93 working days

• Factor VIII full gene sequencing

  Code 3158 · Sequencing

  Genes: F8

  Turnaround time: 33 working days

• Factor V Leiden (F5 gene, NGS)

  Code 10918 · Next-generation sequencing (NGS)

  Genes: F5

  Turnaround time: 33 working days

• Familial amyloid polyneuropathy (FAP)

  Code 2445 · PCR

  Genes: TTR

  Turnaround time: 33 working days

• Familial Behçet-like autoinflammatory syndrome (TNFAIP3 gene, NGS)

  Code 10334 · Next-generation sequencing (NGS)

  Genes: TNFAIP3

  Turnaround time: 33 working days

• Familial congenital intractable diarrhea with epithelial abnormalities (EPCAM gene, NGS)

  Code 10643 · Next-generation sequencing (NGS)

  Genes: EPCAM

  Turnaround time: 33 working days

• Familial focal epilepsy with variable foci (DEPDC5 gene, NGS)

  Code 10873 · Next-generation sequencing (NGS)

  Genes: DEPDC5

  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 LCAT (lecithin-cholesterol acyltransferase) deficiency (LCAT gene, NGS)

  Code 10603 · Next-generation sequencing (NGS)

  Genes: LCAT

  Turnaround time: 33 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 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 (18-gene panel, NGS)

  Code 10253 · Next-generation sequencing (NGS)

  Genes: BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2 and 10 more

  Turnaround time: 33 working days