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 25 of 31

• Osteogenesis imperfecta type V (IFITM5 gene, NGS)

  Code 11053 · Next-generation sequencing (NGS)

  Genes: IFITM5

  Turnaround time: 33 working days

• Osteogenesis imperfecta type VIII (IFITM5 gene, NGS)

  Code 11223 · Next-generation sequencing (NGS)

  Genes: IFITM5

  Turnaround time: 33 working days

• Osteogenesis imperfecta type VIII (P3H1 gene, NGS)

  Code 11222 · Next-generation sequencing (NGS)

  Genes: P3H1

  Turnaround time: 33 working days

• Osteogenesis imperfecta, type XI (FKBP10 gene, NGS)

  Code 11225 · Next-generation sequencing (NGS)

  Genes: FKBP10

  Turnaround time: 33 working days

• Osteopetrosis and high bone density disorders (29-gene panel, NGS)

  Code 11232 · Next-generation sequencing (NGS)

  Genes: AMER1, ANKH, CA2, CLCN7, COL1A1, CTSK, DLX3, FAM20C and 21 more

  Turnaround time: 33 working days

• Osteopetrosis, autosomal recessive type 5 (OSTM1 gene, NGS)

  Code 11229 · Next-generation sequencing (NGS)

  Genes: OSTM1

  Turnaround time: 33 working days

• Osteoporosis, autosomal recessive type 4 (CLCN7 gene, NGS)

  Code 11231 · Next-generation sequencing (NGS)

  Genes: CLCN7

  Turnaround time: 33 working days

• Otofaciocervical syndrome (EYA1 gene, NGS)

  Code 11233 · Next-generation sequencing (NGS)

  Genes: EYA1

  Turnaround time: 33 working days

• Otopalatodigital syndrome type 2 (FLNA gene, NGS)

  Code 11234 · Next-generation sequencing (NGS)

  Genes: FLNA

  Turnaround time: 33 working days

• Ovarian dysgenesis (BMP15 gene, NGS)

  Code 10645 · Next-generation sequencing (NGS)

  Genes: BMP15

  Turnaround time: 33 working days

• Ovarian dysgenesis (FSHR gene, NGS)

  Code 10644 · Next-generation sequencing (NGS)

  Genes: FSHR

  Turnaround time: 33 working days

• PANK2 and FTL gene testing (NGS)

  Code 3323 · Next-generation sequencing (NGS)

  Genes: PANK2, FTL

  Turnaround time: 33 working days

• Parkinson disease 4 (SNCA gene, NGS)

  Code 11271 · Next-generation sequencing (NGS)

  Genes: SNCA

  Turnaround time: 33 working days

• Paroxysmal exercise-induced dyskinesia (SLC2A1 gene, NGS)

  Code 10729 · Next-generation sequencing (NGS)

  Genes: SLC2A1

  Turnaround time: 33 working days

• Partial androgen insensitivity syndrome (AR gene, NGS)

  Code 3307 · Next-generation sequencing (NGS)

  Genes: AR

  Turnaround time: 33 working days

• Partial methylmalonyl-CoA mutase deficiency (MUT gene, NGS)

  Code 10607 · Next-generation sequencing (NGS)

  Genes: MUT

  Turnaround time: 33 working days

• Partington syndrome (ARX gene, NGS)

  Code 11279 · Next-generation sequencing (NGS)

  Genes: ARX

  Turnaround time: 33 working days

• PAX6 gene testing (MLPA)

  Code 3526 · MLPA

  Genes: PAX6

  Turnaround time: 33 working days

• PAX6 gene testing (NGS)

  Code 3525 · Next-generation sequencing (NGS)

  Genes: PAX6

  Turnaround time: 33 working days

• Pelizaeus-Merzbacher disease (PLP1 gene, NGS)

  Code 11281 · Next-generation sequencing (NGS)

  Genes: PLP1

  Turnaround time: 33 working days

• Pendred syndrome (SLC26A4 gene, NGS)

  Code 11282 · Next-generation sequencing (NGS)

  Genes: SLC26A4

  Turnaround time: 33 working days

• Periventricular nodular heterotopia (ARFGEF2 gene, NGS)

  Code 10979 · Next-generation sequencing (NGS)

  Genes: ARFGEF2

  Turnaround time: 33 working days

• Perlman syndrome (DIS3L2 gene, NGS)

  Code 11284 · Next-generation sequencing (NGS)

  Genes: DIS3L2

  Turnaround time: 33 working days

• Permanent neonatal diabetes mellitus (INS gene, NGS)

  Code 10631 · Next-generation sequencing (NGS)

  Genes: INS

  Turnaround time: 33 working days

• Peters anomaly (PAX6 gene, NGS)

  Code 11285 · Next-generation sequencing (NGS)

  Genes: PAX6

  Turnaround time: 33 working days

• Peters anomaly (PITX2 gene, NGS)

  Code 11286 · Next-generation sequencing (NGS)

  Genes: PITX2

  Turnaround time: 33 working days

• Peters-plus syndrome (B3GLCT gene, NGS)

  Code 11287 · Next-generation sequencing (NGS)

  Genes: B3GLCT

  Turnaround time: 33 working days

• Phenylketonuria (5-gene panel, NGS)

  Code 10921 · Next-generation sequencing (NGS)

  Genes: GCH1, PAH, PCBD1, PTS, QDPR

  Turnaround time: 33 working days

• Phenylketonuria (PAH gene, NGS)

  Code 10065 · Next-generation sequencing (NGS)

  Genes: PAH

  Turnaround time: 33 working days

• Phosphoenolpyruvate carboxykinase deficiency (PCK1 gene, NGS)

  Code 10574 · Next-generation sequencing (NGS)

  Genes: PCK1

  Turnaround time: 33 working days