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

774 tests · Page 24 of 26

• 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

• 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

• Ryanodine receptor gene mutation testing

  Code 2455 · PCR

  Genes: RYR1

  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

• 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

• Sensory and autonomic neuropathy (22-gene panel, NGS)

  Code 10022 · Next-generation sequencing (NGS)

  Genes: ATL1, ATL3, CCT5, DNMT1, DST, ELP1, KIF1A, KIF5A and 14 more

  Turnaround time: 33 working days

• Severe intellectual disability and progressive spastic paraplegia (AP4E1 gene, NGS)

  Code 10605 · Next-generation sequencing (NGS)

  Genes: AP4E1

  Turnaround time: 33 working days

• Severe myoclonic epilepsy (SCN1A gene), sequencing

  Code 3231 · Sanger sequencing

  Genes: SCN1A

  Turnaround time: 90 working days

• SGCG gene testing (sequencing)

  Code 3365 · Sanger sequencing

  Genes: SGCG

  Turnaround time: 15 working days

• SLC19A3 gene testing (sequencing)

  Code 3335 · Sanger sequencing

  Genes: SLC19A3

  Turnaround time: 30 working days

• Small fiber neuropathy associated with sodium channelopathies (SCN9A gene, NGS)

  Code 11169 · Next-generation sequencing (NGS)

  Genes: SCN9A

  Turnaround time: 33 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

• Smith-Lemli-Opitz syndrome (DHCR7 gene, sequencing)

  Code 3314 · Sanger sequencing

  Genes: DHCR7

  Turnaround time: 33 working days

• Sotos syndrome and related syndromes (4-gene panel, NGS)

  Code 11344 · Next-generation sequencing (NGS)

  Genes: EZH2, GPC3, NFIX, NSD1

  Turnaround time: 33 working days

• Sotos syndrome (NSD1 gene, NGS)

  Code 11343 · Next-generation sequencing (NGS)

  Genes: NSD1

  Turnaround time: 33 working days

• Sotos syndrome (NSD1 gene, NGS, MLPA)

  Code 3499 · Next-generation sequencing (NGS) + MLPA

  Genes: NSD1

  Turnaround time: 33 working days

• Spastic ataxia of Charlevoix-Saguenay (SACS gene, NGS)

  Code 10308 · Next-generation sequencing (NGS)

  Genes: SACS

  Turnaround time: 33 working days

• Spinal muscular atrophy (28-gene panel, NGS)

  Code 10015 · Next-generation sequencing (NGS)

  Genes: AARS, ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2 and 20 more

  Turnaround time: 33 working days

• Spinal muscular atrophy (SMA) (6-gene panel, NGS)

  Code 10322 · Next-generation sequencing (NGS)

  Genes: PLEKHG5, ATP7A, IGHMBP2, UBA1, DYNC1H1, TRPV4

  Turnaround time: 33 working days

• Spinal muscular atrophy (SMA) (SMN1 gene, NGS)

  Code 10323 · Next-generation sequencing (NGS)

  Genes: SMN1

  Turnaround time: 33 working days

• Spinal muscular atrophy (SMN1 and SMN2 gene testing)

  Code 3125 · MLPA / PCR

  Genes: SMN1, SMN2

  Turnaround time: 25 working days

• Spinal muscular atrophy (SMN1 gene, sequencing)

  Code 3449 · Sequencing

  Genes: SMN1

  Turnaround time: 33 working days

• Spinal muscular atrophy with respiratory distress (IGHMBP2 gene, NGS)

  Code 10324 · Next-generation sequencing (NGS)

  Genes: IGHMBP2

  Turnaround time: 33 working days

• Spinocerebellar ataxia (25-gene panel, NGS)

  Code 10038 · Next-generation sequencing (NGS)

  Genes: AFG3L2, ANO10, ATXN10, CACNA1A, CCDC88C, DNMT1, EEF2, ELOVL4 and 17 more

  Turnaround time: 33 working days

• Spinocerebellar ataxia SCA17 (TBP gene)

  Code 3236 · PCR / Fragment analysis

  Genes: TBP

  Turnaround time: 33 working days

• Spinocerebellar ataxia SCA1 (ATXN1 gene)

  Code 3234 · PCR / Fragment analysis

  Genes: ATXN1

  Turnaround time: 33 working days