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:
• Angelman Syndrome UBE3A Seq.^†
• APECED AIRE Sequencing^†
• Argininosuccinic Aciduria - ASL Sequencing
• ARX Related Disorders^†
• Arylsulfatase A Deficiency - ARSA Sequencing^†
• Cartilage Hair Hypoplasia RMRP Seq.^†
• CDKL5/STK9 Sequencing^†
• CHARGE Syndrome CHD7 Seq.^†
• Citrullinemia Sequencing^†
• Cleidocranial Dysplasia RUNX2 Seq.^†
• Cystic Fibrosis Mutation Analysis
• Cystic Fibrosis - CFTR Sequencing
• Diamond-Blackfan Anemia RPS19 Seq.^†
• DMD - Deletion/Duplication with array-CGH
• DMD - Dystrophin Sequencing^†
• Fabry Disease GLA Sequencing^†
• FAP - APC Sequencing^†
• Focal Dermal Hypoplasia PORCN Sequencing
• Fragile X Syndrome
• Huntington's Disease
• Incontinentia Pigmenti^†
• Lesch-Nyhan Disease HPRT1 Seq.^†
• Leukoencephalopathy VWM EIF2B5 Seq.^†
• Lowe Syndrome OCRL1 Sequencing^†
• MPS1 - IDUA Sequencing^†
• MPS II - IDS Sequencing^†
• Myotonic Dystrophy
• Nail-Patella Syndrome LMX1B Seq.^†
• Noonan Syndrome PTPN11 Sequencing^†
• Osteogenesis Imperfecta, Autosomal Recessive - CRTAP Sequencing^†
• Osteogenesis Imperfecta, Autosomal Recessive - LEPRE1 Sequencing^†
• Pelizaeus-Merzbacher PLP1 Sequencing^†
• Rett Syndrome MECP2 Deletion Analysis
• Rett Syndrome MECP2 Sequencing^†
• RhD Genotyping
• Rothmund-Thomson RECQL4 Seq.^†
• SMCD COL10A1 Sequencing^†
• Spinocerebellar Ataxia Type 1 (SCA1)
• Spinocerebellar Ataxia Type 10 (SCA10)
• Wolman Disease LIPA
• X-Linked Ocular Albinism GPR143^†

Mitochondrial:
• ad-PEO 2 ANT1/SLC25A4
• ad-PEO 3 TWINKLE/PEO1
• ARG1 Sequencing
• BCS1L Related Complex III Deficiency
• Citrin Deficiency SLC25A13
• COQ2 Sequencing
• COX10 Sequencing
• CPS1 Sequencing
• Deoxyguanosine Kinase (DGUOK)
• Guanidinoacetate Methyltransferase Deficiency GAMT
• GATM Sequencing
• Hereditary Fructose Intolerance (ALDOB)
• MNGIE Thymidine Phosphorylase (TP)
• MPV17 Sequencing
• Ornithine Transcarbamylase (OTC Deficiency) - OTC Sequencing
• Optic Atrophy Type I - OPA1 Sequencing
• PDSS1 Sequencing
• PDSS2 Sequencing
• POLG1 Related Disorders
• Pyruvate Dehydrogenase Deficiency PDHA1
• RRM2B Sequencing
• SCO1 Sequencing
• SCO2 Sequencing
• SUCLG1 Sequencing
• SURF Sequencing
• Thymidine Kinase (TK2)

Last modified: 7/25/08