| Intellectual disability | D.I. Autosomal Recessive. NGS of 27 gene panel: ADAT3, ANK3, CC2D1A, CIC, CRADD, CRBN, DLGAP2, FTO, GRIK2, HERC2, MAN1B1, MED23, NPTX2, NSUN2, PRSS12, QKI, SLC4A10, SLC4A4, SNIP1, SOBP, ST3GAL3, TAF2, TECR, TRAPPC9, TTI2, TUSC3, ZNF526. | 42 days | LV2998 | +Info |
| Intellectual disability | D.I. Autosomic Dominant. NGS of 68 gene panel: ARID1A, ARID1B, ASTN2, BEX4, BZRAP1, CACNG2, CADM1, CADPS2, CAMTA1, CDH15, CDH8, CDH9, CNTN4, CSMD1, CTCF, CTNNB1, DCP2, DIP2B, DLG1, DLG4, DOCK8, DYNC1H1, DYRK1A, EHMT1, EPB41L1, FOXP1, FOXP2, FXR1, GATAD2B, GLO1, GLRA3, GRIA1, GRIA2, GRIA4, GRIN1, GRIN2A, GRIN2B, GTF2I, HDAC4, IGF1R, KCNC3, KDM5B, KIF1A, KIRREL3, MBD5, MEF2C, NBEA, NCS1, NPTX2, NR1I3, NUFIP1, NUFIP2, OTX1, PACS1, QKI, RBFOX1, REST, SCN8A, SEMA5A, SMARCA4, SMARCB1, SNAP25, SRGAP3, STX1A, SYNGAP1, ZBTB18, ZC3H14, ZNF385B. | 42 days | LV2997 | +Info |
| Mental retardation, X-linked | D.I. X-Linked NGS of 53 gene panel: ACSL4, AGTR2, ARHGEF6, ARX, ASMT, ATRX, BRWD3, CASK, CCDC22, CLIC2, CNKSR2, CUL4B, DLG3, FGD1, FRMPD4, FTSJ1, GABRE, GDI1, GRIA3, HCFC1, HSD17B10, IL1RAPL1, IQSEC2, KIAA2022, KLF8, MAGT1, MAOA, MAOB, MECP2, NLGN3, NLGN4X, NXF2, NXF5, OPHN1, P2RY8, PAK3, PLXNA3, PLXNB3, PTCHD1, RAB39B, RPS6KA3, RPS6KA6, SOX3, SYP, TRPC5, TSPAN7, ZCCHC12, ZDHHC15, ZMYM3, ZNF41, ZNF630, ZNF711, ZNF81 | 42 days | LV3001 | +Info |
| Waardenburg syndrome | Detection of deletions and duplications in the MITF, PAX3 and SOX10 genes by MLPA | 28 days | LV3921 | +Info |
| Neurodegeneration with brain iron accumulation 1 | Detection of deletions and duplications in the PLA2G6 gene by MLPA | 28 days | LV3371 | +Info |
| Aarskog-Scott syndrome | Detection of deletions and/or duplications in FGD1 gene by MLPA | 28 days | LV2320 | +Info |
| Cornelia de Lange Syndrome | Detection of deletions and/or duplications in NIPBL gene by MLPA. | 28 days | LV2545 | +Info |
| Townes-Brocks Syndrome | Detection of deletions and/or duplications in SALL1 gene by MLPA | 28 days | LV3086 | +Info |
| Blepharophimosis, Ptosis and Epicanthus Inversus; BPES | Detection of large deletions and/ or duplicationsin the FOXL2 gene by MLPA | 28 days | LV2169 | +Info |
| Saethre-Chotzen syndrome | Detection of large deletions and/or duplications in the TWIST1 gene by MLPA | 28 days | LV2247 | +Info |
| Axenfeld-Rieger Syndrome | Detection of large deletions and/or duplications in FOXC1 gene by MLPA | 28 days | LV1567 | +Info |
| Rett syndrome | Detection of large deletions and/or duplications in FOXG1 gene by MLPA | 28 days | LV1259 | +Info |
| Rett syndrome | Detection of large deletions and/or duplications in the MECP2 gene by MLPA | 28 days | LV0956 | +Info |
| Coffin-Lowry syndrome | Detection of large deletions and/or duplications in the RPS6KA3 gene by MLPA | 28 days | LV1537 | +Info |
| Mowat-Wilson Syndrome | Detection of large deletions and/orduplications in the ZEB2 gene by MLPA | 35 days | LV3298 | +Info |
| Apert syndrome | Detection of mutations S252W and P253R in the FGFR2 gene | 28 days | LV0062 | +Info |
| Central Hypoventilation Syndrome, Congenital | Expansion detection in the PHOX2B gene | 28 days | LV2253 | +Info |
| CHARGE Syndrome | Large deletion and duplication detection in theCHD7 gene by MLPA | 35 days | LV3610 | +Info |
| Central Hypoventilation Syndrome, Congenital | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +Info |
| Angelman syndrome | Methylation study in the PWS/AS genomic region and duplications, by MS-MLPA | 42 days | LV1464 | +Info |
| Prader-Willi syndrome | Methylation study in the PWS/AS genomic region and duplications, by MS-MLPA | 42 days | LV1464 | +Info |
| Joubert Syndrome | NGS and bioinformatic CNVs screening, 28-gene panel: AHI1,ARL13B,B9D1,C5orf42,CC2D2A,CEP104,CEP120,CEP290,CEP41,CSPP1,INPP5E,KIAA0556,KIAA0586,MKS1,NPHP1,PDE6D,PIBF1,RPGRIP1L,SUFU,TCTN1,TCTN2,TCTN3,TMEM138,TMEM216,TMEM231,TMEM237,TMEM67,ZNF423, | 49 days | LV4236 | +Info |
| Mental retardation, autosomal recessive 38 | NGS and Sanger sequencing of HERC2 gene | 42 days | LV3386 | +Info |
| Meckel syndrome, type 5 | NGS and Sanger Sequencing of the RPGRIP1L gene | 42 days | LV2025 | +Info |
| Seckel syndrome 1 | NGS and Sanger Sequencing of theATRgene | 42 days | LV1733 | +Info |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome; Polymicrogyria (P) bilateral frontoparietal; P. symmetric or asymmetric; P. with seizures; P. with optic nerve hypoplasia; | NGS of 10 gene panel: ADGRG1, AKT3, DYNC1H1, HEPACAM, OCLN, PIK3R2, RTTN, TUBA8, TUBB2B, TUBB3 | 42 days | LV2981 | +Info |
| Intellectual Disability in: Dyskeratosis congenita; Cerebrotendinous xanthomatosis; Ichthyosis, spastic quadriplegia, and mental retardation; IFAP syndrome with or without Bresheck syndrome; | NGS of 11 gene panel: ALDH18A1, CYP27A1, DKC1, ELOVL4, FGFR2, MBTPS2, NSDHL, PIGL, PORCN, PYCR1, VCX3A | 42 days | LV3020 | +Info |
| ID with metabolic diseases: Congenital disorder of glycosylation Ip, IIA, Iq; Combined oxidative phosphorylation deficiency 7 (D); phenylketonuria; Cytochrome c oxidase D 1; Hyperornithinemia | NGS of 11 gene panel: ALG11, BCS1L, C12orf65, MGAT2, NDUFA1, PAH, SRD5A3, SCO2, SLC25A15, SLC2A1, UROC1 | 42 days | LV3025 | +Info |
| Cerebellar hypoplasia and mental retardation with or without quadruped | NGS of 11 gene panel: ATP8A2, CA8, CASK, DLG1, GAD1, GCK, IGF1, KANK1, MECP2, VLDLR, WDR81 | 42 days | LV2988 | +Info |
| Mental retardation (MR) with or without quadrupedal locomotion; Cerebral palsy, spastic quadriplegic; Encephalopathy, neonatal severe; Diabetes mellitus, permanent neonatal with MR; IGF1 deficien | NGS of 11 gene panel: ATP8A2, CA8, CASK, DLG1, GAD1, GCK, IGF1, KANK1, MECP2, VLDLR, WDR81 | 42 days | LV2988 | +Info |
| Adrenoleukodystrophy; Leukodystrophy, hypomyelinating; Hypomyelination, global cerebral; Deafness, dystonia, and cerebral hypomyelination (DDCH); | NGS of 12 gene panel: ABCD1, AIMP1, BCAP31, DARS, DARS2, FAM126A, GJC2, HSPD1, POLR3A, POLR3B, SLC25A12, TUBB4A. | 42 days | LV2990 | +Info |
| Intellectual Disability autosomal recessive syndromes: Mednik, Kufor-Rakeb, Temtamy, Marble Brain disease, Smith-Lemli-Opitz , Dyggve-Melchior-Clausen, Smith-McCort dysplasia, Ataxia posterior | NGS of 12 gene panel: AP1S1, ATP13A2, C12orf57, CA2, CA6, DHCR7, DYM, FLVCR1, HOXA1, IRX5,KIF1BP, MKKS | 42 days | LV3021 | +Info |
| Pontocerebellar hypoplasia; Dandy-Walker malformation; Mental retardation and microcephaly with pontine and cerebellar hypoplasia | NGS of 12 gene panel: CASK, CHMP1A, CDK16. EXOSC3, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1, ZIC1, ZIC4 | 42 days | LV3005 | +Info |
| Intellectual Disability X-linked | NGS of 124 gene panel: ABCD1, ACSL4, AFF2, AGTR2, AMMECR1, AP1S2, AR, ARHGEF6, ARHGEF9, ARX, ASMT, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BEX4, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, G6PD, GABRE, GDI1, GK, GPC3, GPC4, GRIA3, HCCS, HCFC1, HDAC6, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KIAA2022, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MAOB, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, NXF2, NXF5, OCRL, OFD1, OPHN1, OTC, P2RY8, PAK3, PDHA1, PGK1, PHF6, PHF8, PLP1, PLXNA3, PLXNB3, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RPS6KA3, RPS6KA6, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TIMM8A, TRPC5, TSPAN7, UBE2A, UPF3B, VCX3A, WDR45, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZIC3, ZMYM3, ZNF41, ZNF630, ZNF711, ZNF81. | 56 days | LV3027 | +Info |
| ID with metabolic diseases: Cerebral creatine deficiency (D); Methylcrotonyl-CoA carboxylase 2 D; Glycerol kinase D; Mucopolysaccharidosis II; N-terminal acetyltransferase D; Ornithine transc | NGS of 13 gene panel: ADSL, CYB5R3, GAMT, GATM, GK, IDS, MCCC2, NAA10, OTC, PDHA1, PGK1, SC5D, SLC6A8 | 42 days | LV3024 | +Info |
| Intellectual Disability, with epilepsy. | NGS of 13 gene panel: ARHGEF9, BCKDK, CNTNAP2, DLG1, DLGAP2, GRIN2A, KCNJ10, MEF2C, SLC4A10, SNIP1, SRPX2, STXBP1, SYN1. | 42 days | LV3002 | +Info |
| Intellectual Disability syndromes, autosomal dominant: Bohring-Opitz; CRI-DU-CHAT; Gilles de la Tourette; Koolen-De Vries; Birk-Barel dysmorphism; Williams-Beuren; Feingold; Phelan-McDermid; R | NGS of 13 gene panel: ASXL1, CACNA1C, CTNND2, EHMT1, IMMP2L, KANSL1, KCNK9, LIMK1, MYCN, SHANK3, RNF168, SATB2, TBX3 | 42 days | LV3015 | +Info |
| Intellectual Disability autosomal recessive syndromes: Griscelli type 1, Schindler type I, III, Kanzaki, Porphyria variegata, Kohlschutter-Tonz, COACH, Senior-Loken, Marinesco-Sjogren, DOOR sy | NGS of 13 gene panel: DCAF17, MYO5A, NAGA, PPOX, ROGDI, RPGRIP1L, SDCCAG8, SIL1, TBC1D24, UBR1, VPS13B, ZFYVE26, ZBTB24. | 42 days | LV3022 | +Info |
| AMME complex, Androgen insensitivity, Norrie disease, Lowe, CHILD, Oral-facial-digital syndrome Pelizaeus-Merzbacher disease, TARP, Coffin-Lowry, Stocco dos Santos, Allan-Herndon-Dudley, MR X- | NGS of 14 gene panel: AMMECR1, AR, MAOA, NDP, NSDHL, OCRL, OFD1, PLP1, RBM10, RPS6KA3, SHROOM4, SLC16A2, UPF3B, ZC4H2 | 42 days | LV3019 | +Info |
| Microcephaly (M) primary; M. with or without Chorioretinopathy, lymphedema, mental retardation; Mental retardation and M. with pontine and cerebellar hypoplasia; M. with capillary malformation sy | NGS of 16 gene panel: ASPM, CASC5, CASK, CDK19, CDK5RAP2, CENPJ, CEP135, CEP152, KIF11, MCPH1, PHC1, PNKP, STAMBP, STIL, WDR62, ZNF335. | 42 days | LV2987 | +Info |
| Peroxisome biogenesis disorder (Zellweger), Refsum disease, infantile, Adrenoleukodystrophy, Alagille syndrome. | NGS of 17 gene panel: ABCD1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, JAG1, NOTCH2. | 42 days | LV2995 | +Info |
| Intellectual Disability, X-linked, syndromes: FRAXE, Fried, FG, Fanconi anemia, Fragile X, Turner, Claes-Jensen, Nance-Horan, Siderius, Martin-Probst, Christianson, Snyder-Robinson, Nasciment | NGS of 18 gene panel: AFF2, AP1S2, CASK, FANCB, FMR1, HUWE1, KDM5C, NHS, PHF8, PORCN, PQBP1, PRPS1, RAB40AL, SLC9A6, SMS, UBE2A, TIMM8A, ZDHHC9. | 42 days | LV3018 | +Info |
| Angelman syndrome | NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2 | 42 days | LV3007 | +Info |
| Angelman; Angelman -like; Prader-Willi; Rett; Variant Rett; Mowat-Wilson; Pitt-Hopkins; Christianson; Kleefstra; Smith-Magenis, syndromes | NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2 | 42 days | LV3007 | +Info |
| Mowat-Wilson Syndrome | NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2 | 42 days | LV3007 | +Info |
| Prader-Willi syndrome | NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2 | 42 days | LV3007 | +Info |
| Rett syndrome | NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2 | 42 days | LV3007 | +Info |
| Smiht-Magenis Syndrome | NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2 | 42 days | LV3007 | +Info |
| Joubert Syndrome | NGS of 23 gene panel: AHI1, ARL13B, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, INPP5E, KIF7, NPHP1, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423. | 42 days | LV2980 | +Info |
| Treacher Collins 2, Syndrome | NGS of 3 gene panel: POLR1C, POLR1D, TCOF1 | 42 days | LV3012 | +Info |
| Alpha-Thalassemia, G6PD deficiency, Lesch-Nyhan syndrome, Danon disease. | NGS of 4 gene panel: ATRX, G6PD, HPRT1, LAMP2. | 42 days | LV3017 | +Info |
| Homocystinuria, Methylmalonic acidemia and homocysteinemia, Homocystinuria-megaloblastic anemia. | NGS of 4 gene panel: CBS, HCFC1, MTHFR, MTR | 42 days | LV2999 | +Info |
| Homocystinuria, Methylmalonic acidemia and homocysteinemia, Homocystinuria-megaloblastic anemia. | NGS of 4 gene panel: CBS, HCFC1, MTHFR, MTR | 42 days | LV2999 | +Info |
| Warburg micro syndrome 1, 2, 3, 4 | NGS of 4 gene panel: RAB18, RAB3GAP1, RAB3GAP2, TBC1D20 | 42 days | LV3023 | +Info |
| Neuronal migration defects | NGS of 45 gene panel: ADGRG1, AKT3, ALX4, ATP7A, ARX, CASK, CDK16, CDON, CHMP1A, EMX2, DKK1, DCX, DYNC1H1, EXOSC3, FLNA, GLI2, HCCS, HEPACAM, IGBP1, LAMB1, L1CAM, PAFAH1B1, PTCH1, OCLN, PIK3R2, RARS2, RELN, RTTN, SEPSECS, SHH, SIX3, TGIF1, TSEN2, TSEN34, TSEN54, TUBA8, TUBB2B, TUBB3, TUBA1A, VRK1, YWHAE, ZIC1, ZIC2, ZIC3, ZIC4, | 42 days | LV3026 | +Info |
| Robinow; Aarskog-Scott; Opitz GBBB; KBG, syndromes | NGS of 5 gene panel: ANKRD11, FGD1, MID1, ROR2, WNT5A | 42 days | LV3014 | +Info |
| Seckel syndrome | NGS of 5 gene panel: ATR, CENPJ, CEP152, NIN, RBBP8 | 42 days | LV2989 | +Info |
| Kabuki 1, 2; CHARGE; Townes-Brocks, syndromes | NGS of 5 gene panel: CHD7, KDM6A, KMT2D, MACROD2, SALL1 | 42 days | LV3013 | +Info |
| Kok disease, Alacrima, achalasia, and mental retardation syndrome, Pseudohypoparathyroidism Ib, Hypoparathyroidism-retardation-dysmorphism syndrome; Thyroid hormone resistance | NGS of 5 gene panel: GLRB, GMPPA, GNAS, TBCE, THRB | 42 days | LV3029 | +Info |
| Cornelia de Lange syndrome | NGS of 5 gene panel: HDAC8, NIPBL, RAD21, SMC1A, SMC3 | 42 days | LV2993 | +Info |
| Central Hypoventilation Syndrome, Congenital | NGS of 6 gene panel: ASCL1, BDNF, EDN3, GDNF, PHOX2B, RET | 42 days | LV2986 | +Info |
| Blepharophimosis (B), epicanthus inversus, and ptosis; B-ptosis-intellectual disability syndrome; Say-Barber-Biesecker-Young-Simpson; Genitopatellar; Ohdo; Smith-Lemli-Opitz; Baraitser-Winter syn | NGS of 7 gene panel: ACTB, ACTG1, DHCR7, FOXL2, KAT6B, MED12, UBE3B | 42 days | LV2996 | +Info |
| Microphthalmia, syndromic; Optic nerve hypoplasia and abnormalities of the central nervous system; Chondrodysplasia with platyspondyly, hydrocephaly, and microphthalmia; Cerebellar ataxia wit | NGS of 7 gene panel: BCOR, HCCS, SOX2, STRA6, TUBA8, ZNF592, PAX6 | 42 days | LV2992 | +Info |
| Nephronophthisis; Senior-Loken syndrome; Renal tubular acidosis, proximal, with ocular abnormalities; proximal renal tubular acidosis, mental retardation, and bilateral glaucoma; Ciliary dyski | NGS of 7 gene panel: CCDC40, INVS, NPHP1, SDCCAG8, SLC4A4, TTC21B, ZNF423 | 42 days | LV3028 | +Info |
| Waardenburg syndrome | NGS of 7 gene panel: EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR | 42 days | LV2994 | +Info |
| Hydrocephalus (H), nonsyndromic; H. due to aqueductal stenosis; H. with congenital idiopathic intestinal pseudoobstruction; Hydranencephaly with abnormal genitalia; | NGS of 8 gene panel: AKT3, ARX, CCDC88C, HCCS, HDAC6, L1CAM, MPDZ, PIK3R2. | 42 days | LV3003 | +Info |
| Hydrocephalus due to aqueductal stenosis, Hirschsprung disease, Corpus callosum, partial agenesis of, Congenital cataracts, hearing loss, and neurodegeneration | NGS of 8 gene panel: AKT3, ARX, CCDC88C, HCCS, HDAC6, L1CAM, MPDZ, PIK3R2. | 42 days | LV3003 | +Info |
| Hydrocephalus due to aqueductal stenosis | NGS of 8 gene panel: AKT3, ARX, CCDC88C, HCCS, HDAC6, L1CAM, MPDZ, PIK3R2. | 42 days | LV3003 | +Info |
| Agenesis of the corpus callosum with: Frontonasal dysplasia ; Microphthalmia, syndromic 7; Mental retardation 28; Menkes disease, Occipital horn syndrome, VACTERL association. | NGS of 8 gene panel: ALX4, ATP7A, DYNC1H1, HCCS, IGBP1, L1CAM, YWHAE, ZIC3. | 42 days | LV3011 | +Info |
| Hermansky-Pudlak syndrome | NGS of 8 gene panel: AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS4, HPS5, HPS6 | 42 days | LV2983 | +Info |
| Coffin-Siris syndrome; Hyperphosphatasia with mental retardation syndrome | NGS of 8 gene panel: ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, PGAP2, PIGO, PIGV | 42 days | LV2984 | +Info |
| Intellectual Disability, X-linked, syndromes: Partington, Proud, Hedera, Menkes, Oculofaciocardiodental, Lubs, Rett, Lujan-Fryns, Opitz-Kaveggia, Opitz GBBB, Borjeson-Forssman-Lehmann. | NGS of 8 gene panel: ARX, ATP6AP2, ATP7A, BCOR, MECP2, MED12, MID1, PHF6 | 42 days | LV3016 | +Info |
| Lissencephaly; Subcortical laminar heterotopia; Periventricular heterotopia. | NGS of 8 gene panel: ARX, DCX, FLNA, LAMB1, PAFAH1B1, RELN, TUBA1A, YWHAE | 42 days | LV2985 | +Info |
| Neurodegeneration with brain iron accumulation 1 | NGS of 8 gene panel: C19orf12, COASY, FOLR1, FTL, NALCN, PANK2, PLA2G6, WDR45 | 42 days | LV3000 | +Info |
| Neurodegeneration with brain iron accumulation; Neurodegeneration due to cerebral folate transport deficiency; Neuroaxonal neurodegeneration, infantile, with facial dysmorphism. | NGS of 8 gene panel: C19orf12, COASY, FOLR1, FTL, NALCN, PANK2, PLA2G6, WDR45 | 42 days | LV3000 | +Info |
| Angelman syndrome | NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRB3, GABRG3, MECP2, MBD5, UBE3A | 42 days | LV3008 | +Info |
| Angelman, Angelman syndrome-like, Prader-Willi, Rett y Variant Rett, syndromes | NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRB3, GABRG3, MECP2, MBD5, UBE3A | 42 days | LV3008 | +Info |
| Prader-Willi syndrome | NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRB3, GABRG3, MECP2, MBD5, UBE3A | 42 days | LV3008 | +Info |
| Rett syndrome | NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRB3, GABRG3, MECP2, MBD5, UBE3A | 42 days | LV3008 | +Info |
| Mental retardation witn skeletal dysplasia: Apert; Beare-Stevenson cutis gyrata; Saethre-Chotzen; Muenke; FG 2; Rubinstein-Taybi; Craniofacial dysmorphism, skeletal anomalies, and MR; | NGS of 8 gene panel: CREBBP, FGFR2, FGFR3, HCCS, HDAC6, SLC35A3, TMCO1, ZBTB16 | 42 days | LV3009 | +Info |
| Axenfeld-Rieger; Otopalatodigital; Velocardiofacial; Speech-language disorder-1; Orofacial cleft 7; Orofaciodigital syndrome; Branchiooculofacial, syndromes | NGS of 8 gene panel: FOXC1, PITX2, FLNA, TBX1, FOXP2, PVRL1, TCTN3, TFAP2A | 42 days | LV3010 | +Info |
| Intellectual disability with macrosomia: Simpson-Golabi-Behmel, Sotos, Weaver syndrome, Lujan-Fryns, Marshall-Smith syndromes | NGS of 8 gene panel: GPC3, GPC4, OFD1, EZH2, NRCAM, NFIX, NSD1, MED12 | 42 days | LV3004 | +Info |
| Simpson-Golabi-Behmel Syndrome | NGS of 8 gene panel: GPC3, GPC4, OFD1, EZH2, NRCAM, NFIX, NSD1, MED12 | 42 days | LV3004 | +Info |
| Holoprosencephaly; Schizencephaly | NGS of 9 gene panel: CDON, EMX2, DKK1, GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2 | 42 days | LV3006 | +Info |
| Holoprosencephaly | NGS of 9 gene panel: CDON, EMX2, DKK1, GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2 | 42 days | LV3006 | +Info |
| Schizencephaly | NGS of 9 gene panel: CDON, EMX2, DKK1, GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2 | 42 days | LV3006 | +Info |
| CHARGE Syndrome | NGS of CHD7 gene | 28 days | LV3930 | +Info |
| Rett syndrome | Sanger Sequencing of the NTNG1 gene | 28 days | LV3230 | +Info |
| Adrenoleukodystrophy | Sanger Sequencing of the ABCD1 gene | 42 days | LV1342 | +Info |
| Joubert Syndrome | Sanger Sequencing of the AHI1 gene | 126 days | LV1120 | +Info |
| Lissencephaly, X-Linked | Sanger Sequencing of the ARX gene | 28 days | LV0902 | +Info |
| Rett syndrome | Sanger Sequencing of the CDKL5 gene | 42 days | LV1195 | +Info |
| Schizencephaly | Sanger Sequencing of the EMX2 gene | Consult | LV0976 | +Info |
| Aarskog-Scott syndrome | Sanger Sequencing of the FGD1 gene | 42 days | LV2314 | +Info |
| Axenfeld-Rieger Syndrome | Sanger Sequencing of the FOXC1 gene | 35 days | LV1697 | +Info |
| Rett syndrome | Sanger Sequencing of the FOXG1 gene | 35 days | LV1296 | +Info |
| Blepharophimosis, Ptosis and Epicanthus Inversus; BPES | Sanger Sequencing of the FOXL2 | 35 days | LV2168 | +Info |
| Simpson-Golabi-Behmel Syndrome | Sanger sequencing of the GPC3 gene | 53 days | LV3652 | +Info |
| Hydrocephalus due to aqueductal stenosis | Sanger Sequencing of the L1CAM gene | 53 days | LV0903 | +Info |
| Hydrocephalus with congenital idiopathic intestinal pseudoobstruction | Sanger Sequencing of the L1CAM gene | 53 days | LV0903 | +Info |
| Primary Microcephaly, autosomal recessive | Sanger sequencing of the MCPH1 gene | 70 days | LV0566 | +Info |
| Rett syndrome | Sanger Sequencing of the MECP2 gene | 28 days | LV0343 | +Info |
| Cornelia de Lange Syndrome | Sanger Sequencing of the NIPBL gene | 63 days | LV0881 | +Info |
| Neurodegeneration with brain iron accumulation 1 | Sanger Sequencing of the PANK2 gene | 42 days | LV0982 | +Info |
| Central Hypoventilation Syndrome, Congenital | Sanger sequencing of the PHOX2B gene | 42 days | LV3671 | +Info |
| Axenfeld-Rieger Syndrome | Sanger Sequencing of the PITX2 gene | 35 days | LV2312 | +Info |
| Neurodegeneration with brain iron accumulation 1 | Sanger Sequencing of the PLA2G6 gene | 35 days | LV2586 | +Info |
| Treacher Collins 2, Syndrome | Sanger Sequencing of the POLR1D gene | 28 days | LV2150 | +Info |
| Smiht-Magenis Syndrome | Sanger Sequencing of the RAI1 gene | Consult | LV0936 | +Info |
| Aicardi-Goutieres syndrome 2 | Sanger Sequencing of the RNASEH2B gene | 49 days | LV2311 | +Info |
| Aicardi-Goutieres syndrome 3 | Sanger Sequencing of the RNASEH2C gene | 28 days | LV2310 | +Info |
| Coffin-Lowry syndrome | Sanger Sequencing of the RPS6KA3 gene | 42 days | LV0335 | +Info |
| Townes-Brocks Syndrome | Sanger sequencing of the SALL1 gene | 42 days | LV0808 | +Info |
| Schizencephaly | Sanger Sequencing of the SHH and SIX3 genes | 35 days | LV1284 | +Info |
| Holoprosencephaly | Sanger Sequencing of the SHH gene | 70 days | LV1208 | +Info |
| Cornelia de Lange syndrome 2 | Sanger Sequencing of the SMC1A gene | 49 days | LV2404 | +Info |
| Cornelia de Lange type 3 Syndrome | Sanger Sequencing of the SMC3 gene | 42 days | LV1223 | +Info |
| Aicardi-Goutieres syndrome 1, dominant and recessive | Sanger Sequencing of the TREX1 gene | 28 days | LV2309 | +Info |
| Saethre-Chotzen syndrome | Sanger Sequencing of the TWIST1 gene | 42 days | LV0734 | +Info |
| Angelman syndrome | Sanger Sequencing of the UBE3A gene | 28 days | LV0456 | +Info |
| Cerebellar hypoplasia and mental retardation with or without quadruped | Sanger Sequencing of the VLDLR gene | 35 days | LV2598 | +Info |
| Mowat-Wilson Syndrome | Sanger Sequencing of the ZEB2 gene, and detection of deletions and duplications by MLPA | 42 days | LV1115 | +Info |
| Simpson-Golabi-Behmel Syndrome | Sanger Sequencing, and detection of deletions and duplications in the GPC3 gene by MLPA | 49 days | LV0782 | +Info |
| Prader-Willi syndrome | Uniparental disomy detection of chromosome 15 | 28 days | LV0243 | +Info |
