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

237 tests · Page 8 of 8

• Pulmonary veno-occlusive disease (BMPR2 gene, NGS)

  Code 10857 · Next-generation sequencing (NGS)

  Genes: BMPR2

  Turnaround time: 33 working days

• Pulmonary veno-occlusive disease (EIF2AK3 gene, NGS)

  Code 10858 · Next-generation sequencing (NGS)

  Genes: EIF2AK3

  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

• Restrictive cardiomyopathy (RCM) (3-gene panel, NGS)

  Code 10425 · Next-generation sequencing (NGS)

  Genes: MYH7, TNNT2, TNNI3

  Turnaround time: 33 working days

• Ryanodine receptor gene mutation testing

  Code 2455 · PCR

  Genes: RYR1

  Turnaround time: 33 working days

• Selenoprotein gene mutation testing

  Code 2456 · PCR

  Genes: SELENOP

  Turnaround time: 33 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

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

  Code 11341 · Next-generation sequencing (NGS)

  Genes: GPC3

  Turnaround time: 33 working days

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

  Code 10093 · Next-generation sequencing (NGS)

  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

• Sport gene Profile Cardio (13 SNPs)

  Code 3092 · SNaPshot

  Genes: 13 SNPs

  Turnaround time: 33 working days

• Sport gene Profile Complete (34 SNPs)

  Code 3091 · SNaPshot

  Genes: 34 SNPs

  Turnaround time: 23 working days

• Sport gene Profile Detox (23 SNPs)

  Code 3093 · SNaPshot

  Genes: 23 SNPs

  Turnaround time: 33 working days

• Sport gene Profile Sudden Death (12 mutations)

  Code 3094 · SNaPshot

  Genes: 12 mutações

  Turnaround time: 33 working days

• Sudden cardiac death (WES-based panel, NGS, CNVs)

  Code 3455 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

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

  Code 10260 · Next-generation sequencing (NGS)

  Genes: SLC19A2

  Turnaround time: 33 working days

• Trio exome (NGS)

  Code 3290 · Next-generation sequencing (NGS)

  Genes: Exoma Trio (NGS)

  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

• Ventricular arrhythmia (18-gene panel, NGS)

  Code 10290 · Next-generation sequencing (NGS)

  Genes: AGK, DGUOK, FBXL4, MGME1, MPV17, OPA1, POLG, RRM2B and 7 more

  Turnaround time: 33 working days

• Ventricular arrhythmia / sudden cardiac death without structural heart disease (gene panel, NGS)

  Code 3419 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Werner syndrome (WRN gene, NGS)

  Code 11357 · Next-generation sequencing (NGS)

  Genes: WRN

  Turnaround time: 33 working days

• Wolff-Parkinson-White (WPW) syndrome (PRKAG2 gene, NGS)

  Code 11360 · Next-generation sequencing (NGS)

  Genes: PRKAG2

  Turnaround time: 33 working days

• Wolfram syndrome / autosomal dominant hearing loss 6/14/38 (WFS1 gene, NGS)

  Code 11359 · Next-generation sequencing (NGS)

  Genes: WFS1

  Turnaround time: 33 working days