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

221 tests · Page 5 of 8

• 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 retinoschisis (RS1 gene, NGS)

  Code 11332 · Next-generation sequencing (NGS)

  Genes: RS1

  Turnaround time: 33 working days

• LCAT gene mutation testing

  Code 3077 · Sequencing

  Genes: LCAT

  Turnaround time: 33 working days

• LDL receptor (LDLR) gene mutation testing

  Code 3129 · MLPA / PCR

  Genes: FHCL1

  Turnaround time: 33 working days

• Leber congenital amaurosis (21-gene panel, NGS)

  Code 10223 · Next-generation sequencing (NGS)

  Genes: AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1 and 13 more

  Turnaround time: 33 working days

• Leber congenital amaurosis (CEP290 gene, NGS)

  Code 10224 · Next-generation sequencing (NGS)

  Genes: CEP290

  Turnaround time: 33 working days

• Leber congenital amaurosis (CRB1 gene, NGS)

  Code 10227 · Next-generation sequencing (NGS)

  Genes: CRB1

  Turnaround time: 33 working days

• Leber congenital amaurosis (GUCY2D gene, NGS)

  Code 10225 · Next-generation sequencing (NGS)

  Genes: GUCY2D

  Turnaround time: 33 working days

• Leber congenital amaurosis (IMPDH1 gene, NGS)

  Code 10226 · Next-generation sequencing (NGS)

  Genes: IMPDH1

  Turnaround time: 33 working days

• Leber congenital amaurosis (LRAT gene, NGS)

  Code 10229 · Next-generation sequencing (NGS)

  Genes: LRAT

  Turnaround time: 33 working days

• Leber congenital amaurosis, mutations in codons 837, 838 and 839, GUCY2D gene

  Code 10222 · Next-generation sequencing (NGS)

  Genes: GUCY2D

  Turnaround time: 33 working days

• Leber congenital amaurosis, p.Asp226Asn mutation, IMPDH1 gene

  Code 10221 · Next-generation sequencing (NGS)

  Genes: IMPDH1

  Turnaround time: 33 working days

• Leber congenital amaurosis (RDH12 gene, NGS)

  Code 10228 · Next-generation sequencing (NGS)

  Genes: RDH12

  Turnaround time: 33 working days

• Leber congenital amaurosis (RPE65 gene, NGS)

  Code 10230 · Next-generation sequencing (NGS)

  Genes: RPE65

  Turnaround time: 33 working days

• Lysosomal storage diseases and peroxisomal disorders (84-gene panel, NGS)

  Code 3329 · Next-generation sequencing (NGS)

  Genes: Genes: ACOX1, AGA, AGPS, AGXT, AMACR, AP3B1, ARSA, ARSB, ASAH1, CAT, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, DNM1L, FAR1, FUCA1, GAA, G…

  Turnaround time: 33 working days

• Macular dystrophy (Stargardt disease type 3) (ELOVL4 gene, NGS)

  Code 10754 · Next-generation sequencing (NGS)

  Genes: ELOVL4

  Turnaround time: 33 working days

• Marfan syndrome (21-gene panel, NGS)

  Code 3288 · Next-generation sequencing (NGS)

  Genes: ACTA2, CBS, COL11A1, COL11A2, COL2A1, COL3A1, COL5A1, COL5A2 and 13 more

  Turnaround time: 33 working days

• Marfan syndrome (3-gene panel, NGS)

  Code 11117 · Next-generation sequencing (NGS)

  Genes: TGFBR1, TGFBR2, FBN1

  Turnaround time: 33 working days

• Marfan syndrome (FBN1 gene, NGS)

  Code 11115 · Next-generation sequencing (NGS)

  Genes: FBN1

  Turnaround time: 33 working days

• Methylmalonic acidemia, MUT c.322C>T mutation

  Code 10106 · Next-generation sequencing (NGS)

  Genes: MUT

  Turnaround time: 33 working days

• Mevalonic aciduria, porokeratosis 3, hyper-IgD syndrome (MVK gene, NGS)

  Code 10119 · Next-generation sequencing (NGS)

  Genes: MVK

  Turnaround time: 33 working days

• Microcornea, myopic chorioretinal atrophy, and telecanthus (ADAMTS18 gene, NGS)

  Code 11124 · Next-generation sequencing (NGS)

  Genes: ADAMTS18

  Turnaround time: 33 working days

• Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (POLG gene, NGS)

  Code 10827 · Next-generation sequencing (NGS)

  Genes: POLG

  Turnaround time: 33 working days

• Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), RRM2B (RRM2B gene, NGS)

  Code 10829 · Next-generation sequencing (NGS)

  Genes: RRM2B

  Turnaround time: 33 working days

• Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), TYMP (TYMP gene, NGS)

  Code 10828 · Next-generation sequencing (NGS)

  Genes: TYMP

  Turnaround time: 33 working days

• Mowat-Wilson syndrome (ZEB2 gene, NGS)

  Code 11141 · Next-generation sequencing (NGS)

  Genes: ZEB2

  Turnaround time: 33 working days

• Muckle-Wells syndrome (NLRP3 gene, NGS)

  Code 11142 · Next-generation sequencing (NGS)

  Genes: NLRP3

  Turnaround time: 33 working days

• Mucocutaneous venous malformations/Congenital glaucoma (TEK gene, NGS)

  Code 10006 · Next-generation sequencing (NGS)

  Genes: TEK

  Turnaround time: 33 working days

• Muscle-eye-brain disease (POMGNT1 gene, NGS)

  Code 10853 · Next-generation sequencing (NGS)

  Genes: POMGNT1

  Turnaround time: 33 working days