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

258 tests · Page 2 of 9

• CLL panel testing - p53 gene (17p13.1) (bone marrow)

  Code 3122 · Fluorescence in situ hybridization (FISH)

  Genes: FISH gene p53 (17p13.1)

  Turnaround time: 10 working days

• CLL panel testing - trisomy 12

  Code 3088 · Fluorescence in situ hybridization (FISH)

  Genes: FISH cromossoma 12

  Turnaround time: 10 working days

• Cohen syndrome, VPS13B gene c.3348_3349delCT mutation

  Code 10491 · Next-generation sequencing (NGS)

  Genes: VPS13B

  Turnaround time: 33 working days

• Cohen syndrome (VPS13B gene, NGS)

  Code 10492 · Next-generation sequencing (NGS)

  Genes: VPS13B

  Turnaround time: 33 working days

• Complement component C3 deficiency (C3 gene, NGS)

  Code 3255 · Next-generation sequencing (NGS)

  Genes: C3

  Turnaround time: 33 working days

• Congenital disorder of glycosylation type 1A (PMM2 gene, NGS)

  Code 10531 · Next-generation sequencing (NGS)

  Genes: PMM2

  Turnaround time: 33 working days

• Congenital disorder of glycosylation type 1B (MPI gene, NGS)

  Code 10532 · Next-generation sequencing (NGS)

  Genes: MPI

  Turnaround time: 33 working days

• Congenital disorder of glycosylation type 1C (ALG6 gene, NGS)

  Code 10533 · Next-generation sequencing (NGS)

  Genes: ALG6

  Turnaround time: 33 working days

• Congenital dyserythropoietic anemia (3-gene panel, NGS)

  Code 10254 · Next-generation sequencing (NGS)

  Genes: CDAN1, SEC23B, KLF1

  Turnaround time: 33 working days

• Congenital dyserythropoietic anemia type 1 (CDAN1 gene, NGS)

  Code 10255 · Next-generation sequencing (NGS)

  Genes: CDAN1

  Turnaround time: 33 working days

• Congenital dyserythropoietic anemia type 2 (SEC23B gene, NGS)

  Code 10256 · Next-generation sequencing (NGS)

  Genes: SEC23B

  Turnaround time: 33 working days

• Congenital dyserythropoietic anemia type 3 (KLF1 gene, NGS)

  Code 10257 · Next-generation sequencing (NGS)

  Genes: KLF1

  Turnaround time: 33 working days

• Congenital erythroblastopenia (Blackfan-Diamond anemia) and differential diagnosis (18-gene panel, NGS)

  Code 10154 · Next-generation sequencing (NGS)

  Genes: GATA1, RPL11, RPL15, RPL19, RPL26, RPL35A, RPL5, RPS10 and 10 more

  Turnaround time: 33 working days

• Congenital erythropoietic porphyria (UROS gene, NGS)

  Code 11302 · Next-generation sequencing (NGS)

  Genes: UROS

  Turnaround time: 33 working days

• Congenital protein C deficiency (PROC gene, NGS)

  Code 10560 · Next-generation sequencing (NGS)

  Genes: PROC

  Turnaround time: 33 working days

• CUBN gene testing (NGS)

  Code 3342 · Next-generation sequencing (NGS)

  Genes: CUBN

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (18-gene panel, NGS)

  Code 3268 · Next-generation sequencing (NGS)

  Genes: GATA1, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5 and 10 more

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (9-gene panel, NGS)

  Code 10378 · Next-generation sequencing (NGS)

  Genes: RPS19, RPL5, RPS10, RPL11, RPL35A, RPS26, RPS24, RPS17 and 1 more

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (9-gene panel, NGS)

  Code 3252 · Next-generation sequencing (NGS)

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPL11 gene, NGS)

  Code 10385 · Next-generation sequencing (NGS)

  Genes: RPL11

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPL35A gene, NGS)

  Code 10381 · Next-generation sequencing (NGS)

  Genes: RPL35A

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPL5 gene, NGS)

  Code 10380 · Next-generation sequencing (NGS)

  Genes: RPL5

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPS10 gene, NGS)

  Code 10384 · Next-generation sequencing (NGS)

  Genes: RPS10

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPS17 gene, NGS)

  Code 10383 · Next-generation sequencing (NGS)

  Genes: RPS17

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPS19 gene, NGS)

  Code 10379 · Next-generation sequencing (NGS)

  Genes: RPS19

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPS19 gene, sequencing)

  Code 3251 · Sanger sequencing

  Genes: RPS19

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPS24 gene, NGS)

  Code 10382 · Next-generation sequencing (NGS)

  Genes: RPS24

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPS26 gene, NGS)

  Code 10386 · Next-generation sequencing (NGS)

  Genes: RPS26

  Turnaround time: 33 working days

• Dihydropyrimidine dehydrogenase deficiency, DPYD gene mutation

  Code 3185 · PCR

  Genes: DPYD

  Turnaround time: 13 working days

• DNA extraction

  Code 3289 · Extraction

  Genes: Extração de DNA

  Turnaround time: 3 working days