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 16 of 26

• Isolated focal cortical dysplasia (TSC1 gene, NGS)

  Code 10666 · Next-generation sequencing (NGS)

  Genes: TSC1

  Turnaround time: 33 working days

• Isovaleric acidemia (IVD gene, NGS)

  Code 10105 · Next-generation sequencing (NGS)

  Genes: IVD

  Turnaround time: 33 working days

• Joubert syndrome (41-gene panel, NGS)

  Code 10078 · Next-generation sequencing (NGS)

  Genes: AHI1, ARL13B, ARMC9, B9D1, B9D2, C2CD3, CC2D2A, CEP104 and 33 more

  Turnaround time: 33 working days

• Joubert syndrome type 10 (OFD1 gene, NGS)

  Code 11054 · Next-generation sequencing (NGS)

  Genes: OFD1

  Turnaround time: 33 working days

• Joubert syndrome type 12 (KIF7 gene, NGS)

  Code 11055 · Next-generation sequencing (NGS)

  Genes: KIF7

  Turnaround time: 33 working days

• Joubert syndrome type 1 (INPP5E gene, NGS)

  Code 11056 · Next-generation sequencing (NGS)

  Genes: INPP5E

  Turnaround time: 33 working days

• Joubert syndrome type 2 (TMEM216 gene, NGS)

  Code 11057 · Next-generation sequencing (NGS)

  Genes: TMEM216

  Turnaround time: 33 working days

• Joubert syndrome type 3 (AHI1 gene, NGS)

  Code 11058 · Next-generation sequencing (NGS)

  Genes: AHI1

  Turnaround time: 33 working days

• Joubert syndrome type 4 (NPHP1 gene, NGS)

  Code 11059 · Next-generation sequencing (NGS)

  Genes: NPHP1

  Turnaround time: 33 working days

• Joubert syndrome type 5 (CEP290 gene, NGS)

  Code 11060 · Next-generation sequencing (NGS)

  Genes: CEP290

  Turnaround time: 33 working days

• Joubert syndrome type 6 (TMEM67 gene, NGS)

  Code 11061 · Next-generation sequencing (NGS)

  Genes: TMEM67

  Turnaround time: 33 working days

• Joubert syndrome type 7 (RPGRIP1L gene, NGS)

  Code 11062 · Next-generation sequencing (NGS)

  Genes: RPGRIP1L

  Turnaround time: 33 working days

• Joubert syndrome type 8 (ARL13B gene, NGS)

  Code 11063 · Next-generation sequencing (NGS)

  Genes: ARL13B

  Turnaround time: 33 working days

• Joubert syndrome type 9 (CC2D2A gene, NGS)

  Code 11064 · Next-generation sequencing (NGS)

  Genes: CC2D2A

  Turnaround time: 33 working days

• Juvenile myoclonic epilepsy (EFHC1 gene, NGS)

  Code 10884 · Next-generation sequencing (NGS)

  Genes: EFHC1

  Turnaround time: 33 working days

• Juvenile myoclonic epilepsy (GABRA1 gene, NGS)

  Code 10885 · Next-generation sequencing (NGS)

  Genes: GABRA1

  Turnaround time: 33 working days

• Juvenile-onset dystonia (ACTB gene, NGS)

  Code 10734 · Next-generation sequencing (NGS)

  Genes: ACTB

  Turnaround time: 33 working days

• Kabuki syndrome (2-gene panel, NGS)

  Code 11067 · Next-generation sequencing (NGS)

  Genes: KDM6A, KMT2A

  Turnaround time: 33 working days

• Kabuki syndrome (KDM6A gene, NGS)

  Code 11066 · Next-generation sequencing (NGS)

  Genes: KDM6A

  Turnaround time: 33 working days

• Kabuki syndrome (KMT2D gene, familial variant) [amniotic fluid]

  Code 3212 · Sequencing

  Genes: KMT2D, mutação familiar

  Turnaround time: 24 working days

• Kabuki syndrome (KMT2D gene, NGS)

  Code 11065 · Next-generation sequencing (NGS)

  Genes: KMT2D

  Turnaround time: 33 working days

• Krabbe disease, GALC gene mutations

  Code 3150 · Sequencing

  Genes: GALC

  Turnaround time: 63 working days

• Krabbe disease (GALC gene, NGS)

  Code 11072 · Next-generation sequencing (NGS)

  Genes: GALC

  Turnaround time: 33 working days

• Lafora disease (2-gene panel, NGS)

  Code 11075 · Next-generation sequencing (NGS)

  Genes: EPM2A, NHLRC1

  Turnaround time: 33 working days

• Lafora disease (EPM2A gene, NGS)

  Code 11073 · Next-generation sequencing (NGS)

  Genes: EPM2A

  Turnaround time: 33 working days

• Lafora disease (NHLRC1 gene, NGS)

  Code 11074 · Next-generation sequencing (NGS)

  Genes: NHLRC1

  Turnaround time: 33 working days

• Late infantile neuronal ceroid lipofuscinosis (CLN6 gene, NGS)

  Code 11095 · Next-generation sequencing (NGS)

  Genes: CLN6

  Turnaround time: 33 working days

• Late-onset citrullinemia type II (SLC25A13 gene, NGS)

  Code 10482 · Next-generation sequencing (NGS)

  Genes: SLC25A13

  Turnaround time: 33 working days

• Legius syndrome (neurofibromatosis type 1-like) (SPRED1 gene, NGS)

  Code 11078 · Next-generation sequencing (NGS)

  Genes: SPRED1

  Turnaround time: 33 working days

• LEOPARD syndrome (PTPN11 gene, NGS)

  Code 11079 · Next-generation sequencing (NGS)

  Genes: PTPN11

  Turnaround time: 33 working days