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

617 tests · Page 19 of 21

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

  Code 11324 · Next-generation sequencing (NGS)

  Genes: CHRNG

  Turnaround time: 33 working days

• Pulmonary alveolar microlithiasis (SLC34A2 gene, NGS)

  Code 3298 · Next-generation sequencing (NGS)

  Genes: SLC34A2

  Turnaround time: 33 working days

• Pulmonary alveolar proteinosis (CSF2RA gene, NGS)

  Code 11305 · Next-generation sequencing (NGS)

  Genes: CSF2RA

  Turnaround time: 33 working days

• Pulmonary surfactant deficiency (CSF2RA gene, NGS)

  Code 10596 · Next-generation sequencing (NGS)

  Genes: CSF2RA

  Turnaround time: 33 working days

• RASopathies (including Noonan syndrome) (20-gene panel, NGS)

  Code 11185 · Next-generation sequencing (NGS)

  Genes: A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2 and 12 more

  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, sequencing)

  Code 3294 · Sanger sequencing

  Genes: SLC5A2

  Turnaround time: 33 working days

• Rett syndrome (MECP2 gene)

  Code 3177 · Sequencing

  Genes: MECP2

  Turnaround time: 48 working days

• Rett syndrome (MECP2 gene, NGS)

  Code 11333 · Next-generation sequencing (NGS)

  Genes: MECP2

  Turnaround time: 33 working days

• Rett syndrome (MECP2 gene, NGS, MLPA)

  Code 3507 · Next-generation sequencing (NGS) + MLPA

  Genes: MECP2

  Turnaround time: 33 working days

• Robinow syndrome (9-gene panel, NGS)

  Code 11336 · Next-generation sequencing (NGS)

  Genes: DVL1, DVL3, FGD1, KDM6A, KMT2D, MID1, ROR2, SPECC1L and 1 more

  Turnaround time: 33 working days

• ROBO3 gene testing (NGS, CNVs)

  Code 3524 · Next-generation sequencing (NGS) + CNVs

  Genes: ROBO3

  Turnaround time: 33 working days

• Rubinstein-Taybi syndrome (2-gene panel, NGS)

  Code 11338 · Next-generation sequencing (NGS)

  Genes: CREBBP, EP300

  Turnaround time: 33 working days

• Rubinstein-Taybi syndrome (CREBBP gene, NGS)

  Code 11337 · Next-generation sequencing (NGS)

  Genes: CREBBP

  Turnaround time: 33 working days

• Schaaf-Yang syndrome (MAGEL2 gene, NGS)

  Code 11339 · Next-generation sequencing (NGS)

  Genes: MAGEL2

  Turnaround time: 33 working days

• Schwannomatosis (SMARCB1 gene, NGS)

  Code 3281 · Next-generation sequencing (NGS)

  Genes: SMARCB1

  Turnaround time: 33 working days

• SCN9A gene testing (sequencing)

  Code 3352 · Next-generation sequencing (NGS)

  Genes: SCN9A

  Turnaround time: 48 working days

• SDHD gene testing

  Code 3138 · PCR / Sequencing

  Genes: SDHD

  Turnaround time: 33 working days

• Seckel syndrome (11-gene panel, NGS)

  Code 11340 · Next-generation sequencing (NGS)

  Genes: ATR, ATRIP, CENPJ, CEP152, CEP63, DNA2, NIN, NSMCE2 and 3 more

  Turnaround time: 33 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

• SERPINA1 gene mutation testing

  Code 3104 · PCR / Sequencing

  Genes: SERPINA1

  Turnaround time: 33 working days

• Severe myoclonic epilepsy (SCN1A gene), sequencing

  Code 3231 · Sanger sequencing

  Genes: SCN1A

  Turnaround time: 90 working days

• Severe obesity (46-gene panel, NGS)

  Code 3346 · Next-generation sequencing (NGS)

  Genes: ADRB2, ADRB3, AGRP, ALMS1, ARL6, BBIP1, BBS1, BBS10 and 38 more

  Turnaround time: 33 working days

• Short QT syndrome (5-gene panel, NGS)

  Code 11326 · Next-generation sequencing (NGS)

  Genes: KCNH2, KCNJ2, CACNA1C, CACNB2, KCNQ1

  Turnaround time: 33 working days

• Sick sinus syndrome (2-gene panel, NGS)

  Code 11242 · Next-generation sequencing (NGS)

  Genes: SCN5A, HCN4

  Turnaround time: 33 working days

• Silver-Russell syndrome (MS-MLPA)

  Code 3304 · MS-MLPA

  Genes: deleções/duplicações na região 11p15 e metilação das regiões DMR1 (H19) e DMR2 (KCNQ1OT1)

  Turnaround time: 33 working days

• Simpson-Golabi-Behmel syndrome type 1 (GPC3 gene, NGS)

  Code 11341 · Next-generation sequencing (NGS)

  Genes: GPC3

  Turnaround time: 33 working days

• SLC12A1 gene testing (sequencing)

  Code 3469 · Sequencing

  Genes: SLC12A1

  Turnaround time: 33 working days

• SLC19A3 gene testing (sequencing)

  Code 3335 · Sanger sequencing

  Genes: SLC19A3

  Turnaround time: 30 working days

• Smith-Kingsmore syndrome / focal cortical dysplasia type II (MTOR gene, NGS)

  Code 11342 · Next-generation sequencing (NGS)

  Genes: MTOR

  Turnaround time: 33 working days