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

488 tests · Page 7 of 17

• Ehlers-Danlos syndrome type III (TNXB gene, NGS)

  Code 10814 · Next-generation sequencing (NGS)

  Genes: TNXB

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type I/type II (classical) (2-gene panel, NGS)

  Code 10809 · Next-generation sequencing (NGS)

  Genes: COL5A1, COL5A2

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type I/type II (classical) (COL5A1 gene, NGS)

  Code 10810 · Next-generation sequencing (NGS)

  Genes: COL5A1

  Turnaround time: 33 working days

• 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

• Exclusion of maternal contamination

  Code 3048 · Cytogenetic analysis

  Genes: QF-PCR

  Turnaround time: 12 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

• Expanded carrier screening, NGS sequencing

  Code 3172 · Next-generation sequencing (NGS)

  Genes: Perfil Feminino: 301 doenças genéticas Perfil Masculino: 277 doenças genéticas

  Turnaround time: 25 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

• Factor VIII full gene sequencing

  Code 3158 · Sequencing

  Genes: F8

  Turnaround time: 33 working days

• Factor V Leiden gene mutation (1691G>A mutation)

  Code 908 · PCR

  Genes: F5

  Turnaround time: 8 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

• 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

• Fanconi anemia (BRIP1 gene, NGS)

  Code 10243 · Next-generation sequencing (NGS)

  Genes: BRIP1

  Turnaround time: 33 working days

• Fanconi anemia (FANCA gene, NGS)

  Code 10239 · Next-generation sequencing (NGS)

  Genes: FANCA

  Turnaround time: 33 working days

• Fanconi anemia (FANCB gene, NGS)

  Code 10247 · Next-generation sequencing (NGS)

  Genes: FANCB

  Turnaround time: 33 working days

• Fanconi anemia (FANCC gene, NGS)

  Code 10240 · Next-generation sequencing (NGS)

  Genes: FANCC

  Turnaround time: 33 working days

• Fanconi anemia (FANCE gene, NGS)

  Code 10248 · Next-generation sequencing (NGS)

  Genes: FANCE

  Turnaround time: 33 working days

• Fanconi anemia (FANCF gene, NGS)

  Code 10249 · Next-generation sequencing (NGS)

  Genes: FANCF

  Turnaround time: 33 working days

• Fanconi anemia (FANCG gene, NGS)

  Code 10252 · Next-generation sequencing (NGS)

  Genes: FANCG

  Turnaround time: 33 working days

• Fanconi anemia (FANCI gene, NGS)

  Code 10242 · Next-generation sequencing (NGS)

  Genes: FANCI

  Turnaround time: 33 working days

• Fanconi anemia (FANCL gene, NGS)

  Code 10244 · Next-generation sequencing (NGS)

  Genes: FANCL

  Turnaround time: 33 working days

• Fanconi anemia (FANCM gene, NGS)

  Code 10245 · Next-generation sequencing (NGS)

  Genes: FANCM

  Turnaround time: 33 working days

• Fanconi anemia (PALB2 gene, NGS)

  Code 10246 · Next-generation sequencing (NGS)

  Genes: PALB2

  Turnaround time: 33 working days