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

911 tests · Page 23 of 31

• Nemaline myopathy type 2 (NEB gene, NGS)

  Code 11133 · Next-generation sequencing (NGS)

  Genes: NEB

  Turnaround time: 33 working days

• Nemaline myopathy type 2 (NEB gene, NGS)

  Code 3465 · Next-generation sequencing (NGS)

  Genes: NEB

  Turnaround time: 33 working days

• Neonatal citrullinemia type II (SLC25A13 gene, NGS)

  Code 10483 · Next-generation sequencing (NGS)

  Genes: SLC25A13

  Turnaround time: 33 working days

• Netherton syndrome (SPINK5 gene, NGS)

  Code 3253 · Next-generation sequencing (NGS)

  Genes: SPINK5

  Turnaround time: 33 working days

• Neurodevelopmental disorder with hypotonia, seizures, and absent language (HECW2 gene, NGS)

  Code 11351 · Next-generation sequencing (NGS)

  Genes: HECW2

  Turnaround time: 33 working days

• Neurofibromatosis-like syndromes (8-gene panel, NGS)

  Code 11165 · Next-generation sequencing (NGS)

  Genes: KIT, KITLG, NF1, NF2, PTPN11, RAF1, SMARCB1, SPRED1

  Turnaround time: 33 working days

• Neurofibromatosis type 1, MLPA (NF1 gene)

  Code 3207 · MLPA

  Genes: NF1

  Turnaround time: 33 working days

• Neurofibromatosis type 1 (point mutation) [Amniotic fluid]

  Code 3147 · Sequencing

  Genes: NF1

  Turnaround time: 30 working days

• Neurofibromatosis type 1, sequencing (NF1 gene)

  Code 3206 · Next-generation sequencing (NGS)

  Genes: NF1

  Turnaround time: 33 working days

• Neurofibromatosis type 2, MLPA (NF2 gene)

  Code 3163 · MLPA

  Genes: NF2

  Turnaround time: 93 working days

• Neurofibromatosis type 2, sequencing (NF2 gene)

  Code 3153 · PCR / Sequencing

  Genes: NF2

  Turnaround time: 93 working days

• 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

• NGS panel, 30-50 genes (NGS)

  Code 10089 · Next-generation sequencing (NGS)

  Genes: PAIdo

  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

• Nijmegen breakage syndrome (NBN gene, NGS)

  Code 11181 · Next-generation sequencing (NGS)

  Genes: NBN

  Turnaround time: 33 working days

• Noonan-like syndrome with loose anagen hair (SHOC2 gene, NGS)

  Code 11192 · Next-generation sequencing (NGS)

  Genes: SHOC2

  Turnaround time: 33 working days

• Noonan-like syndrome with or without juvenile myelomonocytic leukemia (CBL gene, NGS)

  Code 11193 · Next-generation sequencing (NGS)

  Genes: CBL

  Turnaround time: 33 working days

• Noonan syndrome and RASopathies (17-gene panel, NGS)

  Code 3230 · Next-generation sequencing (NGS)

  Genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SOS1, SOS2, SPRED1 + DNAmt

  Turnaround time: 33 working days