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

151 tests · Page 2 of 6

• Ehlers-Danlos syndrome (9-gene panel, NGS)

  Code 10808 · Next-generation sequencing (NGS)

  Genes: ADAMTS2, B4GALT7, COL5A1, COL5A2, PLOD1, COL3A1, SLC39A13, COL1A1 and 1 more

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome, classical type (3-gene panel, NGS)

  Code 10807 · Next-generation sequencing (NGS)

  Genes: COL3A1, COL5A1, COL5A2

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome, musculocontractural type (CHST14 gene, NGS)

  Code 10818 · Next-generation sequencing (NGS)

  Genes: CHST14

  Turnaround time: 33 working days

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

  Code 10812 · Next-generation sequencing (NGS)

  Genes: COL3A1

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type III (COL5A3 gene, NGS)

  Code 10813 · Next-generation sequencing (NGS)

  Genes: COL5A3

  Turnaround time: 33 working days

• 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

• Emphysema secondary to AAT (alpha-1-antitrypsin) deficiency, SERPINA1 S and Z variants (PiS (Glu264Val): rs17580 and PiZ (Glu342Lys): rs28929474) (SERPINA1 gene, NGS)

  Code 11362 · Next-generation sequencing (NGS)

  Genes: SERPINA1

  Turnaround time: 33 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

• Fibrodysplasia ossificans progressiva (ACVR1 gene, NGS)

  Code 10922 · Next-generation sequencing (NGS)

  Genes: ACVR1

  Turnaround time: 33 working days

• Fructose-1,6-bisphosphatase deficiency (FBP1 gene, NGS)

  Code 10575 · Next-generation sequencing (NGS)

  Genes: FBP1

  Turnaround time: 33 working days

• Fumaric aciduria, c1431_1433dupAAA mutation, FH gene

  Code 10127 · Next-generation sequencing (NGS)

  Genes: FH

  Turnaround time: 33 working days

• Fumaric aciduria (FH gene, NGS)

  Code 10128 · Next-generation sequencing (NGS)

  Genes: FH

  Turnaround time: 33 working days

• Fusions: ALK, ROS1 - liquid biopsy

  Code 4469 · Real-time PCR

  Genes: ALK, ROS1

  Turnaround time: 6 working days

• Fusions: ALK, ROS1, RET - liquid biopsy

  Code 4467 · Real-time PCR

  Genes: ALK, ROS1, RET

  Turnaround time: 6 working days

• Fusions: ALK, ROS1, RET - tissue biopsy

  Code 4466 · Real-time PCR

  Genes: ALK, ROS1, RET

  Turnaround time: 6 working days

• Fusions: ALK, ROS1 - tissue biopsy

  Code 4468 · Real-time PCR

  Genes: ALK, ROS1

  Turnaround time: 6 working days

• Fusions: RET - liquid biopsy

  Code 4471 · Real-time PCR

  Genes: RET

  Turnaround time: 6 working days

• Fusions: RET - tissue biopsy

  Code 4470 · Real-time PCR

  Genes: RET

  Turnaround time: 6 working days

• GAPO syndrome (ANTXR1 gene, NGS)

  Code 10932 · Next-generation sequencing (NGS)

  Genes: ANTXR1

  Turnaround time: 33 working days

• GJA1 gene testing (sequencing)

  Code 3337 · Sanger sequencing

  Genes: GJA1

  Turnaround time: 30 working days

• GLOW syndrome (tissue mosaicism) (DICER1 gene, NGS)

  Code 10062 · Next-generation sequencing (NGS)

  Genes: DICER1

  Turnaround time: 33 working days

• Gorlin syndrome (PTCH1 gene, NGS)

  Code 10952 · Next-generation sequencing (NGS)

  Genes: PTCH1

  Turnaround time: 33 working days