Please read: Procedures for Prenatal Biochemical and DNA Studies

Please call laboratory and fill out Prenatal Requisition Form completely prior to submitting any prenatal samples to discuss clinical history and sample requirements with one of our counselors.

† = Known Familial Mutation

Cytogenetic Prenatals:

• 1p36 deletion
• Adrenal Hypoplasia Congenita
• Alagille Syndrome
• Angelman Syndrome
• Beckwith-Wiedemann Syndrome
• Chromosome Microarray Analysis
• Cri-du-chat
• Cytogenetic Studies
• DiGeorge Syndrome I (22q only)
• DiGeorge Syndrome II (10p only)
• Glycerol Kinase Deficiency
• Isolated Lissencephaly
• Kallman Syndrome
• Langer-Giedion Syndrome
• Miller- Dieker Syndrome
• MLS/MIDAS
• Multiple Exostoses
• Neurofibromatosis 1
• Potocki-Shaffer Syndrome (EXT2 only)
• Prader-Willi Syndrome
• Rubinstein-Taybi Syndrome
• Smith-Magenis Syndrome
• SOTOS Syndrome
• SRY Analysis
• Telomeres
• Trichorhinophalangeal Syndrome
• Velocardiofacial Syndrome (22p+10q)
• WAGR/Aniridia
• Williams Syndrome
• Wilms Tumor
• Wolf-Hirschhorn Syndrome
• X-linked Ichthyosis/Steroid Sulfatase Deficiency

Biochemical:

• Adenosine Deaminase Deficiency (SCID)
• Argininosuccinic Aciduria
• Cholesterol Ester Storage/Wolman Disease
• Citrullinemia
• Hypoxanthine Phosphoribosyl Transferase (HPRT)
• Lowe Syndrome
• Purine Nucleoside Phosphorylase (PNP) Deficiency
• X-linked Ichthyosis (STS Deficiency)

DNA:

• Androgen Insensitivity Syndrome - AR Seq.^†
• Angelman Syndrome - UBE3A Seq.^†
• APC - Associated Polyposis Conditions^†
• APECED - AIRE Seq.^†
• Argininosuccinic Aciduria - ASL Seq.
• ARX Related Disorders^†
• Arylsulfatase A Deficiency - ARSA Seq.^†
• Bloom's Syndrome - BLM Seq.^†
• Cartilage Hair Hypoplasia - RMRP Seq.^†
• CDKL5/STK9 Seq.^†
• CHARGE Syndrome - CHD7 Seq.^†
• Citrullinemia Seq. - ^†
• Cleidocranial Dysplasia - RUNX2 Seq.^†
• COL2A1 Related Disorders - COL2A1 Sequencing^†
• Costello Syndrome - HRAS Seq.
• Cystic Fibrosis Mutation Analysis
• Cystic Fibrosis - CFTR Seq.
• Diamond-Blackfan Anemia - RPS19 Seq.^†
• Dyskeratosis Congenita - TINF2 Seq.^†
• Ehlers-Danlos Syndrome - PLOD1 Seq.^†
• Fabry Disease - GLA Seq.^†
• FMR1 Related Disorders - FMR1 Seq.^†
• Focal Dermal Hypoplasia - PORCN Seq.^†
• Fragile X Syndrome
• Huntington's Disease
• Incontinentia Pigmenti^†
• Krabbe Deficiency - GALC Seq.^†
• Lesch-Nyhan Disease - HPRT1 Seq.^†
• Leukoencephalo. VWM - EIF2B5 Seq.^†
• Lowe Syndrome - OCRL1 Seq.^†
• MPS1 - IDUA Seq.^†
• MPS II - IDS^†
• MPS4A - GALNS Seq.^†
• Myotonic Dystrophy
• Nail-Patella Syndrome - LMX1B Seq.^†
• Niemann-Pick Disease Type C - NPC1 Seq.^†
• Niemann-Pick Disease Type C - NPC2 Seq.^†
• Noonan Syndrome - PTPN11 Seq.^†
• Noonan Syndrome - KRAS Seq.^†
• Noonan Syndrome - RAF1 Seq.^†
• Noonan Syndrome - SOS1 Seq.^†
• Oculocutaneous Albinism Type 1 - TYR Seq.^†
• Oculocutaneous Albinism Type 2 - OCA2 Sequencing^†
• Oculocutaneous Albinism Type 2 - OCA2 Targeted Deletion Analysis ^†
• Oculocutaneous Albinism Type 3 - TYRP1 Seq.^†
• Oculocutaneous Albinism Type 4 - SLC45A2 Seq.^†
• Osteogenesis Imperfecta, Autosomal Recessive - CRTAP Seq.^†
• Osteogenesis Imperfecta, Autosomal Recessive - LEPRE1 Seq.^†
• Pelizaeus-Merzbacher - PLP1 Seq.^†
• PTEN-Related Disorders^†
• Rett Syndrome - MECP2 Deletion Analysis^†
• Rett Syndrome - MECP2 Seq.^†
• Rett Syndrome, Congenital Variant - FOXG1 Seq. ^†
• RhD Genotyping
• Rothmund-Thomson - RECQL4 Seq.^†
• SMCD - COL10A1 Seq.^†
• Spinocerebellar Ataxia Type 1 (SCA1)
• Spinocerebellar Ataxia Type 10 (SCA10)
• Von Hippel-Lindau Syndrome - VHL ^†
• Wolman Disease - LIPA^†
• X-Linked Angelman-like Syndrome - SLC9A6^†
• X-Linked Ocular Albinism - GPR143^†

Mitochondrial:

• ad-PEO 2 ANT1/SLC25A4
• ad-PEO 3 TWINKLE/C10orf2
• ad-PEO with mtDNA Deletions POLG2
• ARG1
• BCS1L Related Complex III Deficiency
• CACT Deficiency SLC25A20
• Carnitine Transporter Deficiency SLC22A5
• Citrin Deficiency SLC25A13
• COQ2
• COX10
• CPS1
• CRTR Deficiency SLC6A8
• Deafness-Dystonia-Optic Neuropathy Syndrome TIMM8A
• Deoxyguanosine Kinase DGUOK
• Encephalomyopathic mtDNA Deletions SUCLA2
• Glycogen Storage Disease Type 1G6PC
• Guanidinoacetate Methyltransferase Deficiency GAMT
• GATM
• Hereditary Fructose Intolerance ALDOB
• MNGIE Thymidine Phosphorylase (TP)
• MPV17
• OTC Deficiency OTC
• Optic Atrophy Type I OPA1
• PFIC1 ATP8B1
• PFIC2 ABCB11
• PFIC3 ABCB4
• PDSS1
• PDSS2
• POLG1 Related Disorders
• Pyruvate Dehydrogenase Deficiency PDHA1
• RRM2B
• SCO1
• SCO2
• Succinate Dehydrogenase Complex Subunit A, SDHA
• Succinate Dehydrogenase Complex Subunit B, SDHB
• SUCLG1
• SURF
• Thymidine Kinase TK2

Last modified: 8/28/09