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

187 tests · Page 6 of 7

• Omenn syndrome (RAG1 gene, NGS)

  Code 11212 · Next-generation sequencing (NGS)

  Genes: RAG1

  Turnaround time: 33 working days

• Omenn syndrome (RAG2 gene, NGS)

  Code 11213 · Next-generation sequencing (NGS)

  Genes: RAG2

  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

• Papillon-Lefèvre syndrome (CTSC gene, NGS)

  Code 11243 · Next-generation sequencing (NGS)

  Genes: CTSC

  Turnaround time: 33 working days

• Parkes Weber syndrome (RASA1 gene, NGS)

  Code 11268 · Next-generation sequencing (NGS)

  Genes: RASA1

  Turnaround time: 33 working days

• Phakomatoses (27-gene panel, NGS)

  Code 10073 · Next-generation sequencing (NGS)

  Genes: APC, ATM, DICER1, EPCAM, HRAS, IKBKG, LZTR1, MLH1 and 19 more

  Turnaround time: 33 working days

• Phakomatoses and differential diagnosis (26-gene panel, NGS)

  Code 10085 · Next-generation sequencing (NGS)

  Genes: APC, ATM, DICER1, EPCAM, HRAS, IKBKG, LZTR1, MLH1 and 18 more

  Turnaround time: 33 working days

• Piebaldism (KIT gene, NGS)

  Code 11291 · Next-generation sequencing (NGS)

  Genes: KIT

  Turnaround time: 33 working days

• Polyarteritis nodosa / Sneddon syndrome (ADA2 gene, NGS)

  Code 11296 · Next-generation sequencing (NGS)

  Genes: ADA2

  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 erythromelalgia (SCN10A gene, NGS)

  Code 10889 · Next-generation sequencing (NGS)

  Genes: SCN10A

  Turnaround time: 33 working days

• Primary erythromelalgia (SCN11A gene, NGS)

  Code 10890 · Next-generation sequencing (NGS)

  Genes: SCN11A

  Turnaround time: 33 working days

• Primary erythromelalgia (SCN9A gene, NGS)

  Code 10891 · Next-generation sequencing (NGS)

  Genes: SCN9A

  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

• Proteus syndrome (AKT1 gene, NGS)

  Code 11306 · Next-generation sequencing (NGS)

  Genes: AKT1

  Turnaround time: 33 working days

• Prune belly syndrome (CHRM3 gene, NGS)

  Code 11310 · Next-generation sequencing (NGS)

  Genes: CHRM3

  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

• Pterygium syndrome (lethal forms) (CHRNA1 gene, NGS)

  Code 11323 · Next-generation sequencing (NGS)

  Genes: CHRNA1

  Turnaround time: 33 working days

• Pterygium syndrome (lethal forms) (CHRND gene, NGS)

  Code 11322 · Next-generation sequencing (NGS)

  Genes: CHRND

  Turnaround time: 33 working days

• Pterygium syndrome (lethal forms) (CHRNG gene, NGS)

  Code 11324 · Next-generation sequencing (NGS)

  Genes: CHRNG

  Turnaround time: 33 working days

• Pustular psoriasis 14 (2-gene panel, NGS)

  Code 11321 · Next-generation sequencing (NGS)

  Genes: IL36RN, CARD14

  Turnaround time: 33 working days

• Pycnodysostosis (CTSK gene, NGS)

  Code 11289 · Next-generation sequencing (NGS)

  Genes: CTSK

  Turnaround time: 33 working days

• Pyogenic arthritis, pyoderma gangrenosum, acne (PSTPIP1 gene, NGS)

  Code 10289 · Next-generation sequencing (NGS)

  Genes: PSTPIP1

  Turnaround time: 33 working days

• Retinitis pigmentosa (CDHR1 gene, NGS)

  Code 10039 · Next-generation sequencing (NGS)

  Genes: CDHR1

  Turnaround time: 33 working days

• Sitosterolemia (2-gene panel, NGS)

  Code 10928 · Next-generation sequencing (NGS)

  Genes: ABCG5, ABCG8

  Turnaround time: 33 working days

• Superficial epidermolytic ichthyosis (KRT2 gene, NGS)

  Code 11049 · Next-generation sequencing (NGS)

  Genes: KRT2

  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