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

414 tests · Page 12 of 14

• Ornithine transcarbamylase deficiency (OTC gene, NGS)

  Code 10586 · Next-generation sequencing (NGS)

  Genes: OTC

  Turnaround time: 33 working days

• Osteopetrosis - renal tubular acidosis (CA2 gene, NGS)

  Code 11226 · Next-generation sequencing (NGS)

  Genes: CA2

  Turnaround time: 33 working days

• Osteoporosis, autosomal dominant type 2 (CLCN7 gene, NGS)

  Code 11230 · Next-generation sequencing (NGS)

  Genes: CLCN7

  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

• Ovarian response to FSH stimulation (FSHR gene, NGS)

  Code 10790 · Next-generation sequencing (NGS)

  Genes: FSHR

  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

• Pendred syndrome (SLC26A4 gene, NGS)

  Code 11282 · Next-generation sequencing (NGS)

  Genes: SLC26A4

  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

• Permanent neonatal diabetes mellitus (PNDM) (KCNJ11 gene, NGS)

  Code 10635 · Next-generation sequencing (NGS)

  Genes: KCNJ11

  Turnaround time: 33 working days

• Perrault syndrome type 3 (CLPP gene, NGS)

  Code 11277 · Next-generation sequencing (NGS)

  Genes: CLPP

  Turnaround time: 33 working days

• Peutz-Jeghers syndrome (STK11 gene, NGS)

  Code 11288 · Next-generation sequencing (NGS)

  Genes: STK11

  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

• Porphyria (9-gene panel, NGS)

  Code 10179 · Next-generation sequencing (NGS)

  Genes: ALAD, ALAS2, CPOX, FECH, HFE, HMBS, PPOX, UROD and 1 more

  Turnaround time: 33 working days

• Porphyria cutanea tarda (UROD gene, NGS)

  Code 11301 · Next-generation sequencing (NGS)

  Genes: UROD

  Turnaround time: 33 working days

• Primary pigmented nodular adrenocortical disease (PDE11A gene, NGS)

  Code 10165 · Next-generation sequencing (NGS)

  Genes: PDE11A

  Turnaround time: 33 working days

• Primary pigmented nodular adrenocortical disease (PDE8B gene, NGS)

  Code 10166 · Next-generation sequencing (NGS)

  Genes: PDE8B

  Turnaround time: 33 working days

• Progressive external ophthalmoplegia (POLG gene, NGS)

  Code 11205 · Next-generation sequencing (NGS)

  Genes: POLG

  Turnaround time: 33 working days

• Propionic acidemia (2-gene panel, NGS)

  Code 10120 · Next-generation sequencing (NGS)

  Genes: PCCA, PCCB

  Turnaround time: 33 working days

• Propionic acidemia (PCCA gene, NGS)

  Code 10121 · Next-generation sequencing (NGS)

  Genes: PCCA

  Turnaround time: 33 working days

• Propionic acidemia (PCCB gene, NGS)

  Code 10122 · Next-generation sequencing (NGS)

  Genes: PCCB

  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

• Pseudohypoparathyroidism (GNAS gene, NGS)

  Code 11319 · Next-generation sequencing (NGS)

  Genes: GNAS

  Turnaround time: 33 working days

• Pseudohypoparathyroidism type 1A (GNAS gene, MLPA)

  Code 3259 · MLPA

  Genes: GNAS

  Turnaround time: 33 working days

• Pseudohypoparathyroidism type 1A (GNAS gene, sequencing)

  Code 3258 · Sanger sequencing

  Genes: GNAS

  Turnaround time: 33 working days