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 14 of 21

• Large deletion/duplication testing (1 gene, NGS, CNVs)

  Code 3441 · Next-generation sequencing (NGS) + CNVs

  Turnaround time: 30 working days

• Laron syndrome (GHR gene, NGS)

  Code 11076 · Next-generation sequencing (NGS)

  Genes: GHR

  Turnaround time: 33 working days

• Larsen syndrome (FLNB gene, NGS)

  Code 11077 · Next-generation sequencing (NGS)

  Genes: FLNB

  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

• LCAT gene mutation testing

  Code 3077 · Sequencing

  Genes: LCAT

  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

• LEOPARD syndrome (RAF1 gene, NGS)

  Code 11080 · Next-generation sequencing (NGS)

  Genes: RAF1

  Turnaround time: 33 working days

• Lesch-Nyhan syndrome (HPRT1 gene, NGS)

  Code 10189 · Next-generation sequencing (NGS)

  Genes: HPRT1

  Turnaround time: 33 working days

• Lethal congenital contracture syndrome type 1 (GLE1 gene, NGS)

  Code 10506 · Next-generation sequencing (NGS)

  Genes: GLE1

  Turnaround time: 33 working days

• Li-Fraumeni syndrome - TP53 gene

  Code 4009 · NGS, Sanger sequencing, MLPA

  Genes: TP53

  Turnaround time: 30 working days

• Li-Fraumeni syndrome (TP53 gene, NGS)

  Code 11088 · Next-generation sequencing (NGS)

  Genes: TP53

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy [next-generation sequencing, 54 genes (NGS)]

  Code 3124 · Next-generation sequencing (NGS)

  Genes: ACADVL, ANO5, BAG3, CAPN3, CAV3, COL6A1, COL6A2, COL6A3 and 46 more

  Turnaround time: 48 working days

• Limb-girdle muscular dystrophy type 2L (anoctamin 5)

  Code 3113 · Sequencing

  Genes: ANO5

  Turnaround time: 43 working days

• Lipid metabolism testing (15-gene panel, NGS)

  Code 3347 · Next-generation sequencing (NGS)

  Genes: ABCA1, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOE, GPIHBP1 and 7 more

  Turnaround time: 33 working days

• Loeys-Dietz syndrome (6-gene panel, NGS)

  Code 11112 · Next-generation sequencing (NGS)

  Genes: SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2

  Turnaround time: 33 working days

• Loeys-Dietz syndrome (TGFBR1 gene, NGS)

  Code 11111 · Next-generation sequencing (NGS)

  Genes: TGFBR1

  Turnaround time: 33 working days

• Loeys-Dietz syndrome (TGFBR2 gene, NGS)

  Code 11110 · Next-generation sequencing (NGS)

  Genes: TGFBR2

  Turnaround time: 33 working days

• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA gene, sequencing)

  Code 3311 · Sanger sequencing

  Genes: HADHA

  Turnaround time: 33 working days

• Long QT syndrome (12-gene panel, NGS)

  Code 11327 · Next-generation sequencing (NGS)

  Genes: KCNQ1, KCNH2, SCN5A, ANK2, KCNE1, KCNE2, KCNJ2, CACNA1C and 4 more

  Turnaround time: 33 working days

• LPL gene sequencing

  Code 3133 · Sequencing

  Genes: LPL

  Turnaround time: 33 working days

• Lynch syndrome - 5-gene panel

  Code 4003 · NGS, Sanger sequencing, MLPA

  Genes: MLH1, MSH2, MSH6, PMS2, EPCAM

  Turnaround time: 30 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

• Mahvash disease (GCGR gene, NGS)

  Code 3516 · Next-generation sequencing (NGS)

  Genes: GCGR

  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

• Marfan syndrome (TGFBR2 gene, NGS)

  Code 11116 · Next-generation sequencing (NGS)

  Genes: TGFBR2

  Turnaround time: 33 working days

• Marfan syndrome type 2 (TGFBR2 gene, NGS)

  Code 11114 · Next-generation sequencing (NGS)

  Genes: TGFBR2

  Turnaround time: 33 working days

• Marshall-Smith syndrome (NFIX gene, NGS)

  Code 11118 · Next-generation sequencing (NGS)

  Genes: NFIX

  Turnaround time: 33 working days