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

125 tests · Page 4 of 5

• Lysosomal storage diseases and peroxisomal disorders (84-gene panel, NGS)

  Code 3329 · Next-generation sequencing (NGS)

  Genes: Genes: ACOX1, AGA, AGPS, AGXT, AMACR, AP3B1, ARSA, ARSB, ASAH1, CAT, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, DNM1L, FAR1, FUCA1, GAA, G…

  Turnaround time: 33 working days

• Meckel syndrome (13-gene panel, NGS)

  Code 11121 · Next-generation sequencing (NGS)

  Genes: B9D1, B9D2, CC2D2A, CEP290, KIF14, MKS1, NPHP3, RPGRIP1L and 5 more

  Turnaround time: 33 working days

• MEFV P.(Met694Val) (MEFV gene, NGS)

  Code 10914 · Next-generation sequencing (NGS)

  Genes: MEFV

  Turnaround time: 33 working days

• Molecular testing of the GLA gene (Fabry disease)

  Code 3152 · PCR / Sequencing

  Genes: GLA

  Turnaround time: 43 working days

• Muckle-Wells syndrome (NLRP3 gene, NGS)

  Code 11142 · Next-generation sequencing (NGS)

  Genes: NLRP3

  Turnaround time: 33 working days

• Nail-patella-like renal disease (LMX1B gene, NGS)

  Code 11158 · Next-generation sequencing (NGS)

  Genes: LMX1B

  Turnaround time: 33 working days

• Oncology panel (157-gene panel, NGS)

  Code 3310 · Next-generation sequencing (NGS)

  Genes: AIP, AKT1, ALK, APC, ATM, ATR, AXIN2, BAP1 and 149 more

  Turnaround time: 33 working days

• Opitz syndrome (MID1 gene, NGS)

  Code 11215 · Next-generation sequencing (NGS)

  Genes: MID1

  Turnaround time: 33 working days

• Phosphoenolpyruvate carboxykinase deficiency (PCK1 gene, NGS)

  Code 10574 · Next-generation sequencing (NGS)

  Genes: PCK1

  Turnaround time: 33 working days

• Pierson syndrome (LAMB2 gene, NGS)

  Code 11292 · Next-generation sequencing (NGS)

  Genes: LAMB2

  Turnaround time: 33 working days

• Polycystic kidney disease PKD1/PKD2 (2-gene panel, NGS)

  Code 11298 · Next-generation sequencing (NGS)

  Genes: PKD1, PKD2

  Turnaround time: 33 working days

• Prolaris - Myriad

  Code 4701 · Real-time PCR

  Genes: Assinatura Genómica

  Turnaround time: 30 working days

• Pseudohypoaldosteronism type 1 (NR3C2 gene, NGS)

  Code 11315 · Next-generation sequencing (NGS)

  Genes: NR3C2

  Turnaround time: 33 working days

• Pseudohypoaldosteronism type 1 (SCNN1B gene, NGS)

  Code 11316 · Next-generation sequencing (NGS)

  Genes: SCNN1B

  Turnaround time: 33 working days

• Pseudohypoaldosteronism type 1 (SCNN1G gene, NGS)

  Code 11314 · Next-generation sequencing (NGS)

  Genes: SCNN1G

  Turnaround time: 33 working days

• Pseudohypoaldosteronism type 2 (KLHL3 gene, NGS)

  Code 11317 · Next-generation sequencing (NGS)

  Genes: KLHL3

  Turnaround time: 33 working days

• Pseudohypoaldosteronism type 2 (WNK1 gene, NGS)

  Code 11318 · Next-generation sequencing (NGS)

  Genes: WNK1

  Turnaround time: 33 working days

• Pseudoxanthoma elasticum (2-gene panel, NGS)

  Code 11320 · Next-generation sequencing (NGS)

  Genes: ABCC6, GGCX

  Turnaround time: 33 working days

• Pulmonary alveolar microlithiasis (SLC34A2 gene, NGS)

  Code 3298 · Next-generation sequencing (NGS)

  Genes: SLC34A2

  Turnaround time: 33 working days

• Pyruvate carboxylase deficiency (PC gene, NGS)

  Code 10587 · Next-generation sequencing (NGS)

  Genes: PC

  Turnaround time: 33 working days

• Renal agenesis (ITGA8 gene, NGS)

  Code 10186 · Next-generation sequencing (NGS)

  Genes: ITGA8

  Turnaround time: 33 working days

• Renal coloboma syndrome (PAX2 gene, NGS)

  Code 10497 · Next-generation sequencing (NGS)

  Genes: PAX2

  Turnaround time: 33 working days

• Renal glucosuria (SLC5A2 gene, NGS)

  Code 10950 · Next-generation sequencing (NGS)

  Genes: SLC5A2

  Turnaround time: 33 working days

• Renal glucosuria (SLC5A2 gene, sequencing)

  Code 3294 · Sanger sequencing

  Genes: SLC5A2

  Turnaround time: 33 working days

• Select MDX

  Code 3273 · PCR

  Genes: Select MDX

  Turnaround time: 30 working days

• Senior-Loken syndrome (8-gene panel, NGS)

  Code 10077 · Next-generation sequencing (NGS)

  Genes: CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, WDR19

  Turnaround time: 33 working days

• Trio exome (NGS)

  Code 3290 · Next-generation sequencing (NGS)

  Genes: Exoma Trio (NGS)

  Turnaround time: 33 working days

• Tuberous sclerosis complex (2-gene panel, NGS)

  Code 10907 · Next-generation sequencing (NGS)

  Genes: TSC1, TSC2

  Turnaround time: 33 working days

• Tuberous sclerosis complex (TSC1 gene, NGS)

  Code 10906 · Next-generation sequencing (NGS)

  Genes: TSC1

  Turnaround time: 33 working days

• Tuberous sclerosis complex (TSC2 gene, NGS)

  Code 10905 · Next-generation sequencing (NGS)

  Genes: TSC2

  Turnaround time: 33 working days