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 28 of 31

• 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

• Selenoprotein gene mutation testing

  Code 2456 · PCR

  Genes: SELENOP

  Turnaround time: 33 working days

• Septo-optic dysplasia (24-gene panel, NGS)

  Code 10696 · Next-generation sequencing (NGS)

  Genes: ARNT2, CDON, DHCR7, DISP1, FGF8, FGFR1, GAS1, GLI2 and 16 more

  Turnaround time: 33 working days

• Septo-optic dysplasia (HESX1 gene, NGS)

  Code 10695 · Next-generation sequencing (NGS)

  Genes: HESX1

  Turnaround time: 33 working days

• Serum alpha-1 antitrypsin (genotype) (PCR)

  Code 1078 · PCR

  Genes: AFP

  Turnaround time: 24 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

• 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-chain acyl-CoA dehydrogenase deficiency (ACADS gene, NGS)

  Code 10564 · Next-generation sequencing (NGS)

  Genes: ACADS

  Turnaround time: 33 working days

• Short-rib dysplasia / Asphyxiating thoracic dysplasia (17-gene panel, NGS)

  Code 10669 · Next-generation sequencing (NGS)

  Genes: CEP120, CSPP1, DYNC2H1, EVC, EVC2, GLI2, IFT122, IFT140 and 9 more

  Turnaround time: 33 working days

• Short stature (gene panel, NGS)

  Code 3530 · Next-generation sequencing (NGS)

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 33 working days

• SHOX gene testing (NGS)

  Code 3512 · Next-generation sequencing (NGS)

  Genes: SHOX

  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

• Skeletal dysplasias, 391-gene panel

  Code 3209 · Next-generation sequencing (NGS)

  Genes: ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGA, AGPS and 383 more

  Turnaround time: 33 working days

• Skeletal dysplasia with abnormal mineralization (32-gene panel, NGS)

  Code 10690 · Next-generation sequencing (NGS)

  Genes: ALPL, ANKH, B4GALT7, CASR, CLCN5, COL1A1, COL1A2, COL3A1 and 24 more

  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-Lemli-Opitz syndrome (DHCR7 gene, NGS)

  Code 10093 · Next-generation sequencing (NGS)

  Genes: DHCR7

  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 (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

• 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

• Spinocerebellar ataxia SCA2 (ATXN2 gene)

  Code 3105 · PCR

  Genes: ATXN2

  Turnaround time: 33 working days