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 20 of 21

• 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

• Spinal muscular atrophy (SMN1 and SMN2 gene testing)

  Code 3125 · MLPA / PCR

  Genes: SMN1, SMN2

  Turnaround time: 25 working days

• Spondyloepiphyseal dysplasia tarda (TRAPPC2 gene, NGS)

  Code 10686 · Next-generation sequencing (NGS)

  Genes: TRAPPC2

  Turnaround time: 33 working days

• Stargardt disease type 1 (ABCA4 gene, NGS)

  Code 3339 · Next-generation sequencing (NGS)

  Genes: ABCA4

  Turnaround time: 33 working days

• Stickler syndrome (5-gene panel, NGS)

  Code 10080 · Next-generation sequencing (NGS)

  Genes: COL11A1, COL11A2, COL2A1, COL9A1, COL9A2

  Turnaround time: 33 working days

• Tay-Sachs disease (HEXA gene, sequencing)

  Code 3239 · Sanger sequencing

  Genes: HEXA

  Turnaround time: 33 working days

• T-cell clonality - TCRB

  Code 3200 · PCR

  Genes: TCRB

  Turnaround time: 17 working days

• T-cell clonality – TCRG

  Code 3201 · PCR

  Genes: TCRG

  Turnaround time: 17 working days

• Testing for large deletions/duplications (MLPA) - CHEK2

  Code 3509 · MLPA

  Genes: CHEK2

  Turnaround time: 15 working days

• Thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene, NGS)

  Code 10260 · Next-generation sequencing (NGS)

  Genes: SLC19A2

  Turnaround time: 33 working days

• Thiopurine methyltransferase deficiency (TPMT gene polymorphisms)

  Code 3295 · Sanger sequencing

  Genes: TPMT

  Turnaround time: 33 working days

• THRB gene testing (sequencing)

  Code 3243 · Sanger sequencing

  Genes: THRB

  Turnaround time: 33 working days

• Thyroid hormone resistance (exons 7-10, THRB gene, sequencing)

  Code 3283 · Sanger sequencing

  Genes: exões 7-10, gene THRB

  Turnaround time: 33 working days

• Transthyretin mutation (TTR gene, Met 30)

  Code 3036 · Sequencing

  Genes: TTR

  Turnaround time: 63 working days

• Treacher Collins syndrome 1 (TCOF1 gene, NGS)

  Code 11347 · Next-generation sequencing (NGS)

  Genes: TCOF1

  Turnaround time: 33 working days

• Trimethylaminuria, FMO3 gene sequencing

  Code 3120 · Sequencing

  Genes: FMO3

  Turnaround time: 48 working days

• Trio exome (NGS)

  Code 3290 · Next-generation sequencing (NGS)

  Genes: Exoma Trio (NGS)

  Turnaround time: 33 working days

• TTN gene testing (NGS)

  Code 3344 · Next-generation sequencing (NGS)

  Genes: TTN

  Turnaround time: 33 working days

• Tuberous sclerosis complex - NGS sequencing (TSC1 and TSC2)

  Code 3165 · Next-generation sequencing (NGS)

  Genes: TSC1, TSC2

  Turnaround time: 63 working days

• UBP1 gene testing (NGS)

  Code 3320 · Next-generation sequencing (NGS)

  Genes: UBP1

  Turnaround time: 33 working days

• USF1 gene sequencing

  Code 3135 · Sequencing

  Genes: USF1

  Turnaround time: 43 working days

• Usher syndrome (20-gene panel, NGS)

  Code 10079 · Next-generation sequencing (NGS)

  Genes: ABHD12, GPR98, ARSG, CDH23, CIB2, CLRN1, COL4A6, GIPC3 and 12 more

  Turnaround time: 33 working days

• Usher syndrome type 1B (MYO7A gene, NGS)

  Code 10094 · Next-generation sequencing (NGS)

  Genes: MYO7A

  Turnaround time: 33 working days

• VEXAS syndrome (UBA1 gene, sequencing)

  Code 3510 · Next-generation sequencing (NGS)

  Genes: UBA1

  Turnaround time: 33 working days

• Vitamin B12-responsive methylmalonic acidemia (MMAA gene, NGS)

  Code 10117 · Next-generation sequencing (NGS)

  Genes: MMAA

  Turnaround time: 33 working days

• Vitelliform macular dystrophy, adult form (BEST1 gene, NGS)

  Code 10758 · Next-generation sequencing (NGS)

  Genes: BEST1

  Turnaround time: 33 working days

• Vitelliform macular dystrophy type 2 (BEST1 gene, NGS)

  Code 3308 · Next-generation sequencing (NGS)

  Genes: BEST1

  Turnaround time: 33 working days