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

414 tests · Page 11 of 14

• Neuronal ceroid lipofuscinosis (10-gene panel, NGS)

  Code 11096 · Next-generation sequencing (NGS)

  Genes: CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, GRN, MFSD8 and 2 more

  Turnaround time: 33 working days

• Neuronal ceroid lipofuscinosis (CLN3 gene, NGS)

  Code 11098 · Next-generation sequencing (NGS)

  Genes: CLN3

  Turnaround time: 33 working days

• Neuronal ceroid lipofuscinosis (CLN5 gene, NGS)

  Code 11100 · Next-generation sequencing (NGS)

  Genes: CLN5

  Turnaround time: 33 working days

• Neuronal ceroid lipofuscinosis (CLN6 gene, NGS)

  Code 11101 · Next-generation sequencing (NGS)

  Genes: CLN6

  Turnaround time: 33 working days

• Neuronal ceroid lipofuscinosis (CLN8 gene, NGS)

  Code 11102 · Next-generation sequencing (NGS)

  Genes: CLN8

  Turnaround time: 33 working days

• Neuronal ceroid lipofuscinosis (CTSD gene, NGS)

  Code 11103 · Next-generation sequencing (NGS)

  Genes: CTSD

  Turnaround time: 33 working days

• Neuronal ceroid lipofuscinosis (MFSD8 gene, NGS)

  Code 11099 · Next-generation sequencing (NGS)

  Genes: MFSD8

  Turnaround time: 33 working days

• Neuronal ceroid lipofuscinosis (PPT1 gene, NGS)

  Code 11104 · Next-generation sequencing (NGS)

  Genes: PPT1

  Turnaround time: 33 working days

• Neuronal ceroid lipofuscinosis (TPP1 gene, NGS)

  Code 11097 · Next-generation sequencing (NGS)

  Genes: TPP1

  Turnaround time: 33 working days

• Neutral lipid storage disease with myopathy, without ichthyosis (PNPLA2 gene, NGS)

  Code 10854 · Next-generation sequencing (NGS)

  Genes: PNPLA2

  Turnaround time: 33 working days

• Niemann-Pick disease (3-gene panel, NGS)

  Code 11176 · Next-generation sequencing (NGS)

  Genes: NPC1, NPC2, SMPD1

  Turnaround time: 33 working days

• Niemann-Pick disease (type C2) (NPC2 gene, NGS)

  Code 11179 · Next-generation sequencing (NGS)

  Genes: NPC2

  Turnaround time: 33 working days

• Niemann-Pick disease (types A and B) (SMPD1 gene, NGS)

  Code 11177 · Next-generation sequencing (NGS)

  Genes: SMPD1

  Turnaround time: 33 working days

• Niemann-Pick disease (types C1 and D) (NPC1 gene, NGS)

  Code 11178 · Next-generation sequencing (NGS)

  Genes: NPC1

  Turnaround time: 33 working days

• Niemann-Pick disease (types C and D) (2-gene panel, NGS)

  Code 11180 · Next-generation sequencing (NGS)

  Genes: NPC1, NPC2

  Turnaround time: 33 working days

• Nutrichip complete (40 SNPs)

  Code 3095 · SNaPshot

  Genes: 40 SNPs

  Turnaround time: 18 working days

• Nutrichip Food intake (12 SNPs)

  Code 3096 · SNaPshot

  Genes: 12 SNPs

  Turnaround time: 23 working days

• Nutrichip inflammatory response and oxidative stress (2 SNPs)

  Code 3099 · SNaPshot

  Genes: 2 SNPs

  Turnaround time: 23 working days

• Nutrichip Lipid metabolism (9 SNPs)

  Code 3097 · SNaPshot

  Genes: 9 SNPs

  Turnaround time: 23 working days

• Nutrichip Thermogenesis gene (1 SNP)

  Code 3098 · SNaPshot

  Genes: 1 SNPs

  Turnaround time: 23 working days

• Obesity due to leptin deficiency (LEP gene, NGS)

  Code 11197 · Next-generation sequencing (NGS)

  Genes: LEP

  Turnaround time: 33 working days

• Obesity due to leptin receptor gene deficiency (LEPR gene, NGS)

  Code 11196 · Next-generation sequencing (NGS)

  Genes: LEPR

  Turnaround time: 33 working days

• Obesity, susceptibility (CARTPT gene, NGS)

  Code 11204 · Next-generation sequencing (NGS)

  Genes: CARTPT

  Turnaround time: 33 working days

• Obesity, susceptibility (MC3R gene, NGS)

  Code 11201 · Next-generation sequencing (NGS)

  Genes: MC3R

  Turnaround time: 33 working days

• Obesity, susceptibility (POMC gene, NGS)

  Code 11202 · Next-generation sequencing (NGS)

  Genes: POMC

  Turnaround time: 33 working days

• Obesity, susceptibility (PYY gene, NGS)

  Code 11199 · Next-generation sequencing (NGS)

  Genes: PYY

  Turnaround time: 33 working days

• Obesity, susceptibility (SIM1 gene, NGS)

  Code 11203 · Next-generation sequencing (NGS)

  Genes: SIM1

  Turnaround time: 33 working days

• Obesity, susceptibility (UCP3 gene, NGS)

  Code 11200 · Next-generation sequencing (NGS)

  Genes: UCP3

  Turnaround time: 33 working days

• Ohdo syndrome, SBBYS type (KAT6B gene, NGS)

  Code 11210 · Next-generation sequencing (NGS)

  Genes: KAT6B

  Turnaround time: 33 working days

• Organic acidemia/aciduria and cobalamin deficiency (75-gene panel, NGS)

  Code 10130 · Next-generation sequencing (NGS)

  Genes: ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ADK, AHCY, AMN and 67 more

  Turnaround time: 33 working days